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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LMNA Gene

protein-coding   GIFtS: 74
GCID: GC01P156053

Lamin A/C

(Previous names: cardiomyopathy, dilated 1A (autosomal dominant), limb girdle...)
(Previous symbols: LMN1, CMD1A, LGMD1B, PRO1, LMNL1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Lamin A/C1 2     70 KDa Lamin2
LMN11 2 3 5     CDCD12
CMD1A1 2 5     CDDC2
LGMD1B1 2 5     CMT2B12
LMNL11 2     FPL2
PRO11 2     FPLD22
Lamin A/C-Like 11 2     IDC2
EMD22 5     LDP12
FPLD2 5     LFP2
HGPS2 5     LMNC2
Cardiomyopathy, Dilated 1A (Autosomal Dominant)1     lamin2
Limb Girdle Muscular Dystrophy 1B (Autosomal Dominant)1     prelamin-A/C2
Progeria 1 (Hutchinson-Gilford Type)1     Renal Carcinoma Antigen NY-REN-322

External Ids:    HGNC: 66361   Entrez Gene: 40002   Ensembl: ENSG000001607897   OMIM: 1503305   UniProtKB: P025453   

Export aliases for LMNA gene to outside databases

Previous GC identifers: GC01P153921 GC01P151817 GC01P152830 GC01P153301 GC01P152897 GC01P154318 GC01P127446


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LMNA Gene:
The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane.
The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina
matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be
involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A
and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several
diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy,
dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. (provided by
RefSeq, Apr 2012)

GeneCards Summary for LMNA Gene: 
LMNA (lamin A/C) is a protein-coding gene. Diseases associated with LMNA include progeria, and dilated cardiomyopathy, and among its related super-pathways are Apoptosis and survival FAS signaling cascades and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include protein binding and structural molecule activity. An important paralog of this gene is LMNB1.

UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545
Function: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner
nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with
chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in
nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics
Function: Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA
damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature
senescence

Gene Wiki entry for LMNA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LMNA gene promoter:
         STAT1   STAT1beta   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLMNA promoter sequence
   Search SABiosciences Chromatin IP Primers for LMNA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LMNA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q22   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q22

LMNA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LMNA gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P156053:  view genomic region     (about GC identifiers)

Start:
156,052,364 bp from pter      End:
156,109,880 bp from pter
Size:
57,517 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545 (See protein sequence)
Recommended Name: Prelamin-A/C precursor  
Size: 664 amino acids; 74139 Da
Subunit: Homodimer of lamin A and lamin C. Interacts with lamin-associated polypeptides IA, IB and TMPO-alpha, RB1
and with emerin. Interacts with SREBF1, SREBF2, SUN2 and TMEM43 (By similarity). Proteolytically processed
isoform A interacts with NARF. Interacts with SUN1. Prelamin-A/C interacts with EMD. Interacts with MLIP; may
regulate MLIP localization to the nucleus envelope. Interacts with DMPK; may regulate nuclear envelope stability
Subcellular location: Nucleus. Nucleus envelope. Note=Farnesylation of prelamin-A/C facilitates nuclear envelope
targeting and subsequent cleaveage by ZMPSTE24/FACE1 to remove the farnesyl group produces mature lamin-A/C,
which can then be inserted into the nuclear lamina. EMD is required for proper localization of non-farnesylated
prelamin-A/C
Miscellaneous: There are three types of lamins in human cells: A, B, and C
Miscellaneous: The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the
disintegration and formation of the nuclear envelope in prophase and telophase, respectively
Sequence caution: Sequence=CAA27173.1; Type=Frameshift; Positions=582;
6/8 PDB 3D structures from and Proteopedia for LMNA (see all 8):
1IFR (3D)        1IVT (3D)        1X8Y (3D)        2XV5 (3D)        3GEF (3D)        3V4Q (3D)    
Secondary accessions: B4DI32 D3DVB0 E7EUI9 P02546 Q5TCJ2 Q5TCJ3 Q969I8 Q96JA2
Alternative splicing: 4 isoforms:  P02545-1   P02545-2   P02545-3   P02545-4   (No experimental confirmation available. Ref.3 (BAG58344) sequence is in conflict in position: 556:G->R)

Explore the universe of human proteins at neXtProt for LMNA: NX_P02545

Explore proteomics data for LMNA at MOPED 

Post-translational modifications:

  • UniProtKB: Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in
    regulating lamin associations
  • UniProtKB: Proteolytic cleavage of the C-terminal of 18 residues of prelamin-A/C results in the production of lamin-A/C. The
    prelamin-A/C maturation pathway includes farnesylation of CAAX motif, ZMPSTE24/FACE1 mediated cleavage of the
    last three amino acids, methylation of the C-terminal cysteine and endoproteolytic removal of the last 15
    C-terminal amino acids. Proteolytic cleavage requires prior farnesylation and methylation, and absence of these
    blocks cleavage
  • UniProtKB: Sumoylation is necessary for the localization to the nuclear envelope
  • UniProtKB: Farnesylation of prelamin-A/C facilitates nuclear envelope targeting
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02545

  • LMNA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LMNA Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_001244303.1  NP_001269553.1  NP_001269554.1  NP_001269555.1  NP_005563.1  NP_733821.1  NP_733822.1  

    ENSEMBL proteins: 
     ENSP00000357284   ENSP00000357283   ENSP00000357282   ENSP00000395597   ENSP00000424518  
     ENSP00000357280   ENSP00000426535   ENSP00000421821   ENSP00000424977   ENSP00000292304  
     ENSP00000355292   ENSP00000376164  
    Reactome Protein details: P02545
    Human Recombinant Protein Products for LMNA: 
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    OriGene Purified Proteins for LMNA
    OriGene Protein Over-expression Lysate for LMNA
    OriGene MassSpec for LMNA 
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    GenScript Custom Purified and Recombinant Proteins Services for LMNA
    Novus Biologicals LMNA Protein
    Novus Biologicals LMNA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for LMNA
    Cloud-Clone Corp. Proteins for LMNA 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005635nuclear envelope TAS3453101
    GO:0005638lamin filament TAS10080180
    GO:0005652nuclear lamina TAS8344919
    GO:0005654nucleoplasm TAS--

    LMNA for ontologies           About GeneDecksing



    LMNA Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of LMNA
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for LMNA  (lamin A/C)
    OriGene Antibodies for LMNA
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    Novus Biologicals LMNA Antibodies
    Abcam antibodies for LMNA
    Cloud-Clone Corp. Antibodies for LMNA 
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    LSBio Antibodies in human, mouse, rat for LMNA 

    Assay Products for LMNA: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LMNA 
    Cloud-Clone Corp. CLIAs for LMNA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    IFF5: Intermediate filaments type V, lamins

    4 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR016044 F
     IPR001322 Lamin_tail_dom

    Graphical View of Domain Structure for InterPro Entry P02545

    ProtoNet protein and cluster: P02545

    2 Blocks protein domains:
    IPB001322 Intermediate filament
    IPB001664 Intermediate filament protein


    UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545
    Similarity: Belongs to the intermediate filament family


    LMNA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LMNA_HUMAN, P02545
    Function: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner
    nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with
    chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in
    nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics
    Function: Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA
    damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature
    senescence

         Genatlas biochemistry entry for LMNA:
    lamin,types A and C,common gene,alternatively spliced isoforms

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity TAS3453101
    GO:0005515protein binding IPI10381623
         
    LMNA for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for LMNA:
     Increased S DNA content  Increased gamma-H2AX phosphory  Upregulation of Wnt/beta-caten 

         15/25 MGI mutant phenotypes (inferred from 16 alleles(MGI details for Lmna) (see all 25):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

    LMNA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for LMNA: Lmnatm6Lgf Lmnatm1Stw Lmnatm4Lgf Lmnatm5Lgf Lmnatm1Lgf Lmnatm2Lgf

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LMNA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LMNA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LMNA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LMNA 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LMNA
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate LMNA (see all 15):
    hsa-miR-3163 hsa-miR-548d-3p hsa-miR-222* hsa-miR-767-5p hsa-miR-16-1* hsa-miR-548aa hsa-miR-221* hsa-miR-942
    SwitchGear 3'UTR luciferase reporter plasmidLMNA 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
    Products:
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    Sirion Biotech Validated adenovirus to knockdown LMNA in human, mouse 
                         Customized adenovirus for overexpression of LMNA

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for LMNA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): LMNA (NM_170707)
    Sino Biological Human cDNA Clone for LMNA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LMNA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMNA
    Sirion Biotech Customized lentivirus for stable overexpression of LMNA 
                         Customized lentivirus expression plasmids for stable overexpression of LMNA 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNA


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LMNA About   (see all 20)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades0.44
    FAS pathway and Stress induction of HSP regulation0.44
    Apoptosis and survival Caspase cascade0.44
    Caspase cascade in apoptosis0.42
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.53
    3M Phase
    Mitotic Anaphase0.94
    M Phase0.88
    Mitotic Metaphase and Anaphase0.94
    Mitotic M-M/G1 phases0.88
    4Activation of Chaperone Genes by XBP1(S)
    Activation of Chaperones by IRE1alpha0.94
    Unfolded Protein Response0.76
    Activation of Chaperone Genes by XBP1(S)0.94
    5Initiation of Nuclear Envelope Reformation
    Initiation of Nuclear Envelope Reformation0.69
    Nuclear Envelope Reassembly0.69
    Clearance of Nuclear Envelope Membranes from Chromatin0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for LMNA
        Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LMNA
        Caspase Cascade
    Granzyme Pathway
    Fas Signaling

    3 Cell Signaling Technology (CST) Pathways for LMNA
        Apoptosis and Autophagy
    Cell Cycle / Checkpoint Control
    Cytoskeletal Signaling

    2 GeneGo (Thomson Reuters) Pathways for LMNA
        Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades

    4 BioSystems Pathways for LMNA
        Adipogenesis
    FAS pathway and Stress induction of HSP regulation
    Arrhythmogenic right ventricular cardiomyopathy
    Caspase cascade in apoptosis


    5/22        Reactome Pathways for LMNA (see all 22)
        Initiation of Nuclear Envelope Reformation
    Clearance of Nuclear Envelope Membranes from Chromatin
    Cell Cycle
    M Phase
    Apoptosis

    1 PharmGKB Pathway for LMNA
        Antiarrhythmic Pathway, Pharmacodynamics

    3         Kegg Pathways  (Kegg details for LMNA):
        Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy


    LMNA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LMNA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/964 Interacting proteins for LMNA (P025451, 2, 3 ENSP000003572834) via UniProtKB, MINT, STRING, and/or I2D (see all 964)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST2H3AQ71DI32, 3, ENSP000003854794MINT-7893990 MINT-7893924 MINT-7894005 MINT-7894023 MINT-7893941 MINT-7894038 I2D: score=1 STRING: ENSP00000385479
    DDX39BQ138382, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000215425Q138382, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000225073Q138382, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000225859Q138382, 3MINT-7945693 MINT-7947479 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0006997nucleus organization ----

    LMNA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    LMNA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LMNA

    10/18 Novoseek inferred chemical compound relationships for LMNA gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nelfinavir 23.7 2 14600514 (1), 18344876 (1)
    rosiglitazone 18 2 14510863 (2)
    indinavir 17.1 4 14600514 (1), 16184025 (1), 12844477 (1)
    zinc 14.2 12 16278265 (1), 19494770 (1), 19323649 (1), 15998779 (1) (see all 7)
    retinoic acid 12.4 18 15219855 (3), 10694499 (3), 12844477 (2), 11478838 (1) (see all 8)
    deoxyribonucleic acid 6.22 1 12015247 (1)
    calcium 0.975 2 1467310 (1), 19144047 (1)
    cholesterol 0 4 11136544 (1), 12524233 (1), 17994215 (1), 15205219 (1)
    atp 0 6 1965140 (2), 15892163 (1), 2004657 (1)
    lipid 0 3 20130076 (2), 16181372 (1)

    Search CenterWatch for drugs/clinical trials and news about LMNA

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for LMNA gene (7 alternative transcripts): 
    NM_001257374.2  NM_001282624.1  NM_001282625.1  NM_001282626.1  NM_005572.3  NM_170707.3  NM_170708.3  

    Unigene Cluster for LMNA:

    Lamin A/C
    Hs.594444  [show with all ESTs]
    Unigene Representative Sequence: NM_170707
    18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000502751 ENST00000368301(uc001fnf.1) ENST00000495341 ENST00000470835
    ENST00000515711 ENST00000368300(uc001fng.2 uc001fni.2 uc009wro.1 uc001fnk.2)
    ENST00000478063 ENST00000470199 ENST00000469565 ENST00000368299 ENST00000502357
    ENST00000448611(uc010pgz.1) ENST00000515459 ENST00000368297 ENST00000504687
    ENST00000473598 ENST00000515824 ENST00000496738(uc001fnj.2 uc010pha.1)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LMNA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMNA
    Sirion Biotech Customized lentivirus for stable overexpression of LMNA 
                         Customized lentivirus expression plasmids for stable overexpression of LMNA 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMNA

    Additional mRNA sequence: 

    AF381029.1 AK026584.1 AK056143.1 AK056191.1 AK057997.1 AK097801.1 AK098128.1 AK122732.1 
    AK130179.1 AK294217.1 AK295390.1 AK309539.1 AY357727.1 AY528714.1 AY847595.1 AY847596.1 
    AY847597.1 BC000511.2 BC003162.1 BC014507.1 BC018863.2 BC033088.1 M13451.1 M13452.1 
    NR_047544.1 NR_047545.1 X03444.1 X03445.1 

    24/79 DOTS entries (see all 79):

    DT.100891747  DT.91871177  DT.92469899  DT.95246279  DT.100891714  DT.95294580  DT.100891710  DT.121347135 
    DT.92469913  DT.100891740  DT.100891733  DT.92057489  DT.101986435  DT.121347131  DT.121347084  DT.100891726 
    DT.99987681  DT.95322263  DT.100039687  DT.121347143  DT.121347120  DT.100891698  DT.100891751  DT.320389 

    1597 AceView cDNA sequences (see top 24):

    BQ899088 CR626536 BE383355 CD367718 CA423881 BM560647 BQ934954 H13874 
    BG059624 AK056191 CA405830 AI654262 BQ219808 BU838224 BQ933470 BQ929963 
    BG749019 CB123672 BQ949807 T75500 BE741126 BQ777189 CA454200 BQ958754 
    BX445332 BM759463 BQ219558 BQ943551 BQ225951 BE885040 CD364753 BM836602 
    AK130179 BC000511 CA436010 BE311540 CB136735 BE745889 BM980869 BM795614 
    BE273844 BQ428464 BM786338 BM992900 BG260177 CA422162 BQ689357 AI087023 
    BU624859 BC014507 CF132636 BQ933372 BE613729 BM837113 CA439573 CB114427 
    R74022 BU174781 BQ933009 NM_005572 CA406353 BM907256 BE385996 NM_170708 
    BU528164 BM725276 BI770050 BF725411 BM988801 BQ650325 BG774265 BI822606 
    AI446447 BQ689334 BE388000 BU158062 BQ954261 BM563534 AI084018 BF970433 
    AA569105 BI861477 CA420950 BE262618 CD674046 BU527683 BU166920 BQ932553 
    BM795382 AI440199 BE731167 AI417383 BI835620 BU194876 AW273189 AY357727 
    CB130289 AL515889 CK000151 R54621 BU626255 BQ711771 BU149036 CR600170 
    CR604156 CA395830 BQ945294 BU543235 BF984822 BQ689912 BM759568 CD172220 
    BX406132 AK098128 BU194709 BE336696 BU155880 BQ428078 BQ934324 BE385948 
    BQ879747 BQ433650 BG831209 BQ689214 CB126469 AU139796 BQ215790 BM726202 
    BI963905 BM796577 BM760150 AI889491 BM471750 BQ225298 BE742154 BM828139 
    CF132284 BU150107 BU190315 BG753260 CF125977 CD674047 BU956429 BU184734 
    CB216124 BE739890 CB135269 BQ068654 BQ881616 BE408991 AL543932 BQ688734 
    AI678682 CA841908 BU180391 H02237 BQ189121 BM998141 BQ948016 BQ933420 
    CB108774 CB124946 BQ684037 AL701184 CA407855 BM467971 AL549782 BM826021 
    CR623720 BQ689110 AI184300 BQ233157 BQ952116 BE550222 BM560522 CA396080 
    BQ683095 BX387276 CB150408 CB152954 AI834323 BE384308 BQ686823 AI674212 
    BQ927391 CF131339 CR620993 BQ920800 BE271717 BU952662 AK097801 BM694915 
    CF132166 BM551760 BM786322 BQ935634 BQ670150 CR603908 CB128404 BU751814 
    BQ681589 BU845157 BG255527 CB124011 BE277255 BQ653662 BM830530 BM763673 
    AI129393 BQ647460 AA400974 BM781806 BE732919 CD674183 BQ683291 BU163354 
    CR605674 BE891004 BC003162 BQ887524 BM913668 AA374074 CB132173 BQ881063 
    BQ892281 CR619166 BE394808 BM829434 CB152958 NM_170707 CA843032 BQ927101 
    BM836839 BU734409 AW245428 BU616462 BI964222 BM819880 BQ940951 BQ431561 
    BE563498 T27614 BQ933560 CD368143 BQ948097 CD672793 D52428 BU195500 
    CA488152 AL602697 BQ898109 AU134139 BM824153 BM710596 BE748144 BU178121 
    CA488198 BQ883374 BQ962961 AI497918 AI679597 BG829463 BU190818 BQ686442 
    BM763030 AU134860 BQ576269 BM908250 CB124212 AL534588 BQ672706 BQ949985 
    BM838020 BC018863 BG330158 BU541082 BE394840 CR598617 BM795146 BU527728 
    BU943871 BQ212079 AU120748 BM855193 W23629 BM828159 BE902429 BQ686108 
    CD515351 BQ440799 BE277289 AF381029 CB140636 BU857695 AW081821 BU855257 
    BQ878386 CA389373 BQ651845 AA526188 CB528890 BI908804 BU542321 CR619146 
    BM785968 AK122732 BU628579 BQ233872 CB138659 BU528574 AI219557 BM991542 
    BG323982 BM837263 BQ688714 BQ962417 BQ674247 BQ932930 CA397702 BI908577 
    BM836892 BU624065 BU528517 BP871073 BM791141 CA432112 BM724447 AI203290 
    BQ878384 BQ677957 CR622626 CD516607 CF132672 CB130594 BG753420 BM829550 
    AW262857 AL527048 BQ925263 BU177195 F29440 AL552639 BM698878 BG327955 
    BU848633 AI141801 BQ690734 BI005413 BG058732 AI149988 BI257379 AL549051 
    CB126191 BG764701 AW080595 BQ644678 CD364969 AI803823 BF971675 BI860099 
    CD620848 BQ686202 BE747241 BG765753 BM794989 BE313578 CB993013 BI561331 
    BU685425 CA439106 BX402657 BE302861 BG576355 BF569243 BE313539 BF312035 
    BQ654338 CO247666 CB142415 BG423813 BM826422 BG770718 BI195851 BM051110 
    CA443891 AA534337 BQ686473 AU141882 BG697410 BQ016572 BF195650 BQ945712 
    BG421115 AU130227 BQ685949 BM739063 BI670148 AL518509 BU162545 AI660822 
    BG679422 CB988470 BF125344 BQ688263 BG769289 CA426216 BM549207 BQ644427 
    BE904182 BM083787 BQ672651 BE408471 AI002109 BE326686 BI457568 AL522201 
    BM046745 AI608872 AL544580 AL573845 CB125633 AI660248 BM794411 BX339588 
    BE747580 BG763795 BG751005 BQ901151 BQ922458 BX324458 BG291103 BG331943 
    CA394278 BE743136 BG771075 BG324908 BM786304 BU527956 AW069622 CA424001 
    BI828827 BU541228 X03445 BG718639 BQ654047 BG760871 BG830928 BG385672 
    BU191356 BE735784 CA406573 BM837075 BQ679672 BI869499 BX438733 BG766968 
    BG167665 BI333937 BQ574327 BU553893 BM042986 BU151484 BG823726 BM854120 
    BG030924 CA405735 AI080023 BM839587 BQ015921 BG679159 BG747466 BE895174 
    BU543896 BG822592 BQ955869 BE544170 AI273432 BM980305 T81571 BQ677887 
    BG769043 BU500850 BM914475 BM677718 CA426153 BQ005576 CB125711 BQ691807 
    BE735390 AL551236 BX483921 CB529541 BQ954730 CB959646 BM796899 BM468449 
    BG762386 BG709343 BE382597 BE880395 BI256920 BE901291 AI351076 BQ004604 
    BQ959607 BU543021 BM045699 BE514928 AW192659 CN481523 CD620856 BG770312 
    N20553 BG327047 BG766180 BG574083 BG469842 AI127934 AI160452 CB529720 
    BQ424735 BG471885 BE384082 AL542279 BQ685002 BQ653894 AA369645 BM738523 
    BM836695 R23628 CB960729 AA961132 BI160620 BE873717 BM752487 CB991781 
    CB132076 BM811334 BX439157 CB110972 AA284719 BU500137 AL554772 AA594368 
    BG421218 BI764681 BU752027 BC033088 BU687241 AI887656 BQ926244 CB989750 
    BG831768 BI488568 BQ688359 BF971926 BG715859 BG740834 BF338396 BQ446060 
    BF109764 BU189649 BG423931 BQ877795 BG821602 BQ651611 BG330864 BG325464 
    AA371687 BM836974 BF344015 BQ778291 BM903701 BG768469 BQ648990 BG285874 
    BQ644297 BG331089 CF132488 CB124660 AU134390 BU542826 AA360945 BX446735 
    BG769923 BU168440 AW276349 BG422962 CD243124 BU686339 BU741700 BU527169 
    BM453529 CA843788 BG424394 AL578718 AI570879 BF340092 CA775841 BF685734 
    CD251075 CA421611 BM714386 R70195 BE278241 CB242469 BF195056 BG775502 
    BM834841 BM046936 AA587475 BG033408 BE748559 BG336698 AA295223 BI561605 
    BE747280 CF131722 BM794449 BU196343 BG420208 BI161336 BM751510 BF686540 
    BX431718 BF032323 BM673415 BG489943 AV706952 BG331020 AA977422 BG339769 
    BI011278 AI701956 BQ230223 BQ684741 BG762032 BG765110 BE878245 AU155680 
    BF182890 BM552469 BQ929642 AI128506 BQ689345 AL572643 BE393013 BQ717327 
    BG330751 BQ939969 BG751672 BU628628 BG753208 CB854404 BM708709 BE293149 
    BG749818 CB137384 BI858736 AL547846 CB528799 AL526129 BI084425 BE894830 
    BF684539 AA149923 BG747681 BU168871 BQ890187 BU732343 BF035195 BM979501 
    CB044372 BU856149 BG829459 AL044139 AK026584 AU135513 AL531078 BG485706 
    BG028989 CD367371 BG761416 AI283337 BE745967 BF315977 BU839194 BU541965 
    AU133803 BE389011 M13452 BE875245 BE279371 BG822820 BG420234 BG763391 
    CB992188 CD109869 BQ220110 BI836090 AA923529 BG283068 BU682915 AI365669 
    BI836040 BG752668 BI258988 BM983786 BG482493 BM809201 BU743029 BQ691083 
    BI837827 BG829872 AA378253 CB991626 AL555723 CA307468 BQ677261 BG326104 
    BM042309 BI757824 AL578163 CB148668 BQ948165 BQ668508 CA395877 CD365197 
    CB139571 BM969918 BM837520 BM925876 BG765359 BU168332 BG420321 BM049294 
    CB147125 BG760704 BM045634 BI518325 BG118830 BG332511 AL046826 BE206167 
    BG036147 AI972489 BG768657 AL563933 BF313290 BU535419 BU624914 AI911694 
    CB113555 CA312066 BQ939435 BU527692 BG325483 BM836975 AI610595 BM916889 
    AW613798 AI628530 BG761401 BE379165 BQ938571 AA777180 BQ100835 BF684740 
    BG769301 BQ019800 BI091194 BX363096 BI523733 BF684815 BG422905 BU186042 
    BQ928695 BU191229 CN484185 AI911853 CB044373 BG476664 BG748282 AW002334 
    H28203 AL516552 BE315456 BM787271 BG753234 BU150249 BE746752 BG822844 
    AW009778 BE378649 AL570318 BG778930 BM757284 BU541062 BM827929 BM797110 
    BG983190 CF131250 BQ690743 BM830579 BE543659 BG325266 BF220083 BQ691870 
    BG715914 BM790954 BG821491 AL545550 BE907248 BG179703 BQ644045 BE906251 
    BG824058 BG478720 BG419672 BI160530 BF237579 BE879196 AL524230 BE301840 
    BQ883824 AW732517 CO249777 BE613565 C06377 AI811966 BQ683129 BG701671 
    CB140341 BU180120 BM837840 BE272747 BQ883991 BE615177 BQ722541 BQ690342 
    BQ643825 BG761146 CD110032 BE869491 BI093632 BI196114 BG765761 BU160013 
    BM830050 BU167392 BQ774420 CN480537 BE208049 BI258282 BG281238 CN480332 
    BI457328 BG254166 BQ677941 BG437494 AL602320 BF570218 BE884805 BF315448 
    AI621195 BE392380 BU553733 BE741601 AL121004 CB160302 BM979204 BI196746 
    BI762355 AA128688 BQ688085 BQ923306 CD620852 CB124219 BG325782 BG059842 
    BF339124 BM011159 AI803888 BM982364 BM756617 CB068026 AI143136 BX417896 
    BE741891 BE409161 AK057997 AU076972 BQ948014 BQ957405 BU501368 BG767841 
    AW238797 CB178046 BE279601 CB149700 BU161741 BQ020354 BG338007 BG475711 
    AW178695 BG480676 BG121757 CA436127 AK056143 BU687230 AU155238 BQ957768 
    D55092 C02919 AA295817 BU166286 BG114602 BG747163 BF346269 AI139122 
    AL523449 BG339166 BE910646 AL571219 BI517605 AL552807 BU190484 BU159070 
    BG326189 BI335070 BQ669204 BQ923760 BE743559 AA308619 BM452159 BE732517 
    BG437389 BU168886 AW337161 BE877967 BG831153 BU177151 BQ644692 BE258158 
    AL523901 BQ671126 BE741154 BX324460 BQ073422 CD620845 BQ962919 BQ719211 
    BQ101136 BM044996 BP381495 M13451 BQ575529 CF132413 CB266803 BF568266 
    BM046205 BG121589 BG490935 BQ019712 BG831124 X03444 BQ380651 BG824642 
    BE869002 CF132303 BE875339 BG762902 BG675574 BE563153 BE563602 AL556469 
    BQ927100 BU628745 BG763878 BE727131 BU174269 BQ691671 BQ957104 BV183364 
    BQ575684 BG119733 BI117461 CB269177 BM790409 BQ674014 BQ681591 AW261861 
    AA158615 BI199297 CA435633 BG775098 BG032016 AA316324 AL547147 BM715431 
    BX374150 BM849796 CF594258 BF026990 BG478639 BU168573 BQ685344 BG386274 
    BG252839 BG821153 BG248222 BM836898 AA813351 BQ678303 BQ956330 BG830718 
    BE391086 BM838040 BM828731 H44572 BM821790 AL577420 AI962000 BQ942305 
    AI968643 AU280539 BI195349 BE391130 AA961563 AW195724 BF343415 BP432197 
    AI799623 T81986 BE247446 AL522200 BE278685 AA476846 AI920930 AA878443 
    AU155563 BM969323 CA406131 BM685365 AA552369 CB126194 AI768259 AA662074 
    BE731391 BG474370 AI752112 AL562283 AA132691 BG762113 R70345 AA330127 
    AL522881 BU072027 AA009972 BQ073404 H67894 AL562800 CA943166 BG770479 
    BM718590 BG764524 BF934896 N93385 R54732 BU539276 BQ888614 AA897393 
    BQ677709 BG399090 CD620851 AW732434 AW008070 BI161044 BM047823 AI874369 
    BQ878187 BF126034 BG339598 AA157840 BF026811 AV706605 BG339062 BQ424221 
    BM152459 BI012272 BE616110 AA375663 H75789 BX324459 BG395233 CB243655 
    BG829954 BF125608 AA604635 CA776056 AW513792 BI914614 BG911567 AW068718 
    BM797867 CD620858 BE311748 CF141899 BQ687599 AW768658 AA314170 BQ927617 
    BF688836 AI620814 BE385883 BM091017 BQ936597 BG473943 AI859525 BX358628 
    BG280875 BE886307 AI686713 AA149990 N34785 AW001321 AI983927 BE388403 
    BX324457 BG769111 BG422657 BG722919 BE378614 BG425291 AI932904 AL547111 
    BX332013 CD172519 AI383099 CB148906 AU156089 BX457581 BI834953 BG722926 
    CB137628 BG118970 AA506148 AW274619 BG761813 AI742283 N92467 BI457571 
    AW025435 BE736864 BG681083 AA496997 BU166961 AL516551 BF718703 BM790469 
    AA558592 BG681960 AI569069 AA063576 BE563350 AU147255 CA417412 AV727946 
    AI750943 BG280950 N69363 BQ231547 AU127276 BU731721 CB988601 BQ673779 
    BM042425 BI192854 BF569754 BG281670 BM751262 CB149165 AA113797 BE391554 
    BE728316 BG775698 BM017883 BM828722 AA553831 BG058668 BF344104 BM313273 
    BE221253 R79543 T54841 BG335605 BG721158 BM819595 BE391595 BX445331 
    AU154997 AI752311 BX472851 BE563156 BU145839 BI548804 AA165697 BG334791 
    BX353228 BI254492 BE615359 CB149358 W92262 W47417 BE271380 BM669664 
    AA042919 BG724241 AL529583 BQ007896 BU539493 AA160013 AA862024 CA435612 
    AU144613 AI865851 BE272594 AI002393 BF933395 AL562619 BI195287 CD620846 
    AI302749 BE728293 BE794372 BG831948 BU731900 H13831 AI078093 BG760884 
    AA622917 AI367579 BE622171 BQ940222 BF688357 AI689407 H26367 T48331 
    AI689049 AI752735 N24964 BM044320 AL522880 BX339306 BG252662 BF027607 
    BQ888598 BI160790 BM791818 AA158307 AL515888 BI561802 AA079780 AA578831 
    BM048195 BG489801 BE614959 AA709266 AA076386 BI005411 AI445377 AU159099 
    BG761832 AU144386 BE301243 AA828222 BM755516 BI818292 BU157091 AL523448 
    W35219 BI911119 BG622189 BG569951 BX344864 R70356 AA554695 BI869975 
    BI042520 BI906271 H94408 BQ232906 AI635790 AA156574 AA042907 AI814696 
    AA284896 AA011106 BG475449 AU146056 BE410725 BE788623 D55055 BU529070 
    BI010447 AI587237 BM050583 AA630395 BU950894 BM836936 T80894 BE272774 
    BE910562 BU177828 CB125684 BU620289 AI570910 H27813 AA633173 AU148271 
    AA158419 BF921574 R70196 BU540666 BE868068 AA160300 CD620840 AA853575 
    AA633170 BE262912 AI239414 AW245786 CB132124 BG331255 AI834329 AA157108 
    T86435 BE390415 CA487725 D11851 AA009971 AA052896 BQ678076 AU155092 
    AA011039 BE278077 BE387523 AW082754 AW630015 AA977289 BM755705 AA079752 
    AA617648 AA158024 AI039427 AL530808 BM923095 W73498 BM837740 BG250864 
    AI914733 BQ721175 H94316 AI813616 AA599490 BE300536 BM836955 BQ073767 
    AU154857 BG682614 AW950189 BX336354 R69429 AU158825 AW732435 BM013736 
    BI524593 BG118250 BG437951 CA868207 R47924 BM910093 W47612 AU144430 
    BM091322 AA662108 AA971500 BG938688 BM854442 BF760521 BX351462 BG423592 
    AI872233 R70346 AW339207 BG118358 AI023845 BM809185 BE615331 BF132595 
    BG339490 BQ015908 AL575869 BQ962207 BF476008 BE388429 H27754 BX363438 
    AW188455 BP873526 CF131321 AA838130 AI627213 AA035706 BU732422 BU173578 
    AA523096 AI254230 AW304365 AA307416 N29265 AI972393 R55455 R79542 
    AI683440 AW450106 AU147867 BX360403 AU147517 BE296200 AL542278 BG123007 
    AI571606 AI972217 AI498237 BX342399 AA535854 T55218 AA595926 BE388037 
    AA397856 BU188357 BE868447 BI457534 AL530807 AU145732 AA158420 BQ929000 
    AU158982 BE271599 AA837841 AA632393 BQ892729 BI159839 AA114114 AL574874 
    BG762812 AL562322 T29540 BE734979 AW303859 BQ675976 H22218 AA076538 
    AI200474 AA057544 CD245072 H28249 AU147605 F34553 AU159433 AW197992 
    BE878227 BG822443 BE391922 AI814093 AA160361 AA160236 T68743 BG315015 
    AI126259 AA329547 BQ940453 AA059450 CD620838 R74021 AI189413 AA158524 
    CA842206 AA128502 R50544 AI802580 AA489582 AU148092 T75547 BF350417 
    CD365536 AA158616 BG119605 H44571 T80823 AI962044 BE736552 AA160091 
    BX494181 AA968781 AA729809 AL529582 AU147366 AL047709 R70355 BX360887 
    BU553618 R88141 AA565233 H67939 AA771920 BQ952634 AA157897 BG326581 
    BQ682860 CO245329 H75788 R62804 BG681973 W16593 BU185718 AI869188 
    AA578820 BQ878436 AA852297 BI005405 CB995432 AA605150 T48330 BG747558 
    BF887070 AI090900 H22169 AU145481 R54884 BE149587 AU152381 BF848800 
    AI934224 AA158412 BI045975 BF435939 BM313214 BG326598 R48032 AL518508 
    AI192456 BQ359465 BQ327212 BF679852 BF884684 BG682593 BE966291 AI699001 
    BQ957612 BI868896 AI352377 AI191123 AU146648 AI951206 BU185349 CD620843 
    BF835771 BM046285 AL573392 AL570656 T68810 AA132784 BU509576 BM790471 
    R62854 BU509599 T86524 CA868441 AL575981 AA662257 N91391 BG489887 
    BG151520 R50641 AL565579 AA723126 BI085034 BF343098 BE967003 BG775784 
    BQ073505 AA401138 BF570477 BG436809 AA150322 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for LMNA    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c
    SP1:                                            -                                   -                                 
    SP2:                                            -                                   -           -                     
    SP3:                                            -                                                                     
    SP4:                                                                                                                  


    ECgene alternative splicing isoforms for LMNA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LMNA expression in normal human tissues (normalized intensities)      LMNA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGGGGGCT
    LMNA Expression
    About this image


    LMNA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/38 selected tissues (see all 38) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             cd14+ cells   
     
     Ovary (Reproductive System)    fully expand to see all 4 entries
             Primary Oocyte Primary Follicle
             Secondary follicles
             ovary ; follicle cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   

    See LMNA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LMNA

    SOURCE GeneReport for Unigene cluster: Hs.594444

    UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545
    Tissue specificity: In the arteries, prelamin-A/C accumulation is not observed in young healthy vessels but is
    prevalent in medial vascular smooth muscle cells (VSMCs) from aged individuals and in atherosclerotic lesions,
    where it often colocalizes with senescent and degenerate VSMCs. Prelamin-A/C expression increases with age and
    disease. In normal aging, the accumulation of prelamin-A/C is caused in part by the down-regulation of
    ZMPSTE24/FACE1 in response to oxidative stress

        SABiosciences Expression via Pathway-Focused PCR Arrays including LMNA: 
              TNF Ligands & Receptors in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Adipogenesis in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for LMNA
    OriGene qSTAR qPCR primer pairs in human, mouse for LMNA
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LMNA
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LMNA
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMNA
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LMNA gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lmna1 , 5 lamin A1, 5 90.3(n)1
    96.83(a)1
      3 (38.84 cM)5
    169051  NM_001002011.21  NP_001002011.21 
     884811485 
    chicken
    (Gallus gallus)
    Aves LMNA6
    lamin A/C
    47(a)
    1 ↔ 1
    10(10954013-10971823)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    68(a)
    53(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    GL344336.1(6444-21018)
    2(41214999-41216574)
    African clawed frog
    (Xenopus laevis)
    Amphibia lmna-A2 lamin A/C 76.67(n)    X06345.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lmna2 lamin A 76.11(n)   195815  AF397016.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta LamC3 nuclear envelope reassembly 37(a)
    (best of 2)
      51B1   --
    worm
    (Caenorhabditis elegans)
    Secernentea lmn-13 Intermediate filament proteins (2
    domains)
    30(a)
    (best of 5)
      I(8771116-8773244)   --


    ENSEMBL Gene Tree for LMNA (if available)
    TreeFam Gene Tree for LMNA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LMNA gene
    LMNB12  VIM2  INA2  PRPH2  NEFM2  DES2  LMNB22  NEFH2  
    GFAP2  
    5 SIMAP similar genes for LMNA using alignment to 9 protein entries:     LMNA_HUMAN (see all proteins):
    LMNB1    LMNB2    VIM    KRT5    keratin

    LMNA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1420 SNPs in LMNA are shown (see all 1420)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0099894
    Lipodystrophy, familial partial, 2 (FPLD2)4--see VAR_0099892 G D mis40--------
    VAR_0397884
    Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)4--see VAR_0397882 R S mis40--------
    VAR_0397784
    Lipodystrophy, familial partial, 2 (FPLD2)4--see VAR_0397782 R C mis40--------
    VAR_0635914
    Muscular dystrophy congenital LMNA-related (MDCL)4--see VAR_0635912 L S mis40--------
    VAR_0099804
    Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)4--see VAR_0099802 R Q mis40--------
    VAR_0397914
    Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)4--see VAR_0397912 R H mis40--------
    VAR_0397874
    Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)4--see VAR_0397872 R H mis40--------
    VAR_0162054
    Limb-girdle muscular dystrophy 1B (LGMD1B)4--see VAR_0162052 R H mis40--------
    VAR_0649704
    Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)4--see VAR_0649702 E K mis40--------
    VAR_0397634
    Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)4--see VAR_0397632 R Q mis40--------

    HapMap Linkage Disequilibrium report for LMNA (156052364 - 156109880 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for LMNA:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509513CNV Insertion20534489


    Human Gene Mutation Database (HGMD): LMNA

    Locus Specific Mutation Databases (LSDB): LMNA
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing LMNA
    DNA2.0 Custom Variant and Variant Library Synthesis for LMNA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 150330   
    OMIM disorders: 181350  115200  151660  605588  159001  248370  176670  275210  610140  
    UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]: A form of Emery-Dreifuss
    muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement
    of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy
    associated with cardiac conduction defects. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:181350]: A form of Emery-Dreifuss
    muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement
    of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy
    associated with cardiac conduction defects. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]: A disorder characterized by the loss of
    subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an
    accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance.
    Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected
    patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years,
    hypertriglyceridemia, and low levels of high density lipoprotein cholesterol. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Limb-girdle muscular dystrophy 1B (LGMD1B) [MIM:159001]: An autosomal dominant degenerative myopathy with
    age-related atrioventricular cardiac conduction disturbances, dilated cardiomyopathy, and the absence of early
    contractures. Characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles.
    Muscle biopsy shows mild dystrophic changes. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Charcot-Marie-Tooth disease 2B1 (CMT2B1) [MIM:605588]: A recessive axonal form of Charcot-Marie-Tooth
    disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy,
    initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is
    classified in two main groups on the basis of electrophysiologic properties and histopathology: primary
    peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral
    axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in
    the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and
    progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]: Rare genetic disorder characterized by features
    reminiscent of marked premature aging. Note=The disease is caused by mutations affecting the gene represented in
    this entry. HGPS is caused by the toxic accumulation of a mutant form of lamin-A/C. This mutant protein, called
    progerin, acts to deregulate mitosis and DNA damage signaling, leading to premature cell death and senescence.
    Progerin lacks the conserved ZMPSTE24/FACE1 cleavage site and therefore remains permanently farnesylated. Thus,
    although it can enter the nucleus and associate with the nuclear envelope, it cannot incorporate normally into
    the nuclear lamina
  • Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112]: A disorder
    characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy.
    Patients can present other variable clinical manifestations including mental retardation, skeletal anomalies,
    scleroderma-like skin, graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is characterized by
    ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]: A disorder characterized by
    mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid
    appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of
    subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Lethal tight skin contracture syndrome (LTSCS) [MIM:275210]: Rare disorder mainly characterized by
    intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and
    epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent
    eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia,
    multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first
    week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Heart-hand syndrome Slovenian type (HHS-Slovenian) [MIM:610140]: Heart-hand syndrome (HHS) is a
    clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac
    disease and limb malformations. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]: A form of congenital muscular dystrophy.
    Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with
    joint contractures. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/130 diseases for LMNA (see all 130):    About MalaCards
    progeria    dilated cardiomyopathy    emery-dreifuss muscular dystrophy    familial partial lipodystrophy
    atypical werner syndrome    emery-dreifuss muscular dystrophy, ad    heart-hand syndrome, slovenian type    limb-girdle muscular dystrophy, type 1b
    charcot-marie-tooth neuropathy type 2b1    emery-dreifuss muscular dystrophy, ar    lmna-related emery-dreifuss muscular dystrophy, autosomal    progeroid laminopathies
    lmna-related dilated cardiomyopathy    familial partial lipodystrophy, kobberling type    autosomal codominant severe lipodystrophic laminopathy    laminopathy type decaudain-vigouroux
    lipodystrophy, familial partial, type 2    progeria-associated arthropathy    dilated cardiomyopathy with quadriceps myopathy    lmna-related muscle diseases

    9 diseases from the University of Copenhagen DISEASES database for LMNA:
    Progeria     Lipodystrophy     Dilated cardiomyopathy     Myopathy
    Neuropathy     Congenital heart block     Werner syndrome     Acanthosis nigricans
    Genetic disorder

    LMNA for disorders           About GeneDecksing

    10/73 Novoseek inferred disease relationships for LMNA gene (see all 73)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipodystrophy, familial partial 97.8 88 12015247 (3), 11397881 (2), 18364375 (2), 19622949 (2) (see all 63)
    progeria 97 77 15479179 (2), 17076270 (2), 16671095 (2), 17469202 (2) (see all 59)
    muscular dystrophy emery-dreifuss 96.5 48 19589462 (2), 16697197 (2), 12685553 (1), 20225280 (1) (see all 41)
    emery-dreifuss muscular dystrophy, autosomal dominant 96.4 21 11532159 (1), 10587585 (1), 11102973 (1), 15639119 (1) (see all 19)
    lgmd1b 95.4 28 10814726 (4), 15678000 (3), 19070492 (2), 15668447 (1) (see all 15)
    mandibuloacral dysplasia 95.3 25 16278265 (2), 16046620 (1), 16364671 (1), 15843404 (1) (see all 16)
    partial lipodystrophy 93.2 32 15817509 (1), 11102973 (1), 12524233 (1), 15773753 (1) (see all 26)
    lipodystrophy 90 59 18077842 (3), 11078466 (2), 12788894 (2), 12844477 (2) (see all 37)
    acroosteolysis 86.4 4 16278265 (1), 17848409 (1), 18554282 (1)
    lipodystrophy, congenital generalized 85.4 4 19169477 (1), 19494770 (1), 14516935 (1)

    GeneTests: LMNA
    GeneReviews: LMNA
    Genetic Association Database (GAD): LMNA
    Human Genome Epidemiology (HuGE) Navigator: LMNA (37 documents)

    Export disorders for LMNA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LMNA gene, integrated from 9 sources (see all 799):
    (articles sorted by number of sources associating them with LMNA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. (PubMed id 12920062)1, 2, 4, 9 Sebillon P.... Komajda M. (2003)
    2. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. (PubMed id 15219508)1, 2, 4, 9 Hermida-Prieto M....Crespo-Leiro M. (2004)
    3. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). (PubMed id 12768443)1, 2, 9 Cao H. and Hegele R.A. (2003)
    4. Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects. (PubMed id 17327460)1, 4, 9 Owen K.R....McCarthy M.I. (2007)
    5. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. (PubMed id 18585512)1, 4, 9 Parks S.B....Hershberger R.E. (2008)
    6. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. (PubMed id 11897440)1, 2, 9 Arbustini E....Tavazzi L. (2002)
    7. Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies. (PubMed id 17327461)1, 4, 9 Mesa J.L....Barroso I. (2007)
    8. Variation in the lamin A/C gene: associations with metabolic syndrome. (PubMed id 15205219)1, 4, 9 Steinle N.I....Shuldiner A.R. (2004)
    9. LMNA mutations in atypical Werner's syndrome. (PubMed id 12927431)1, 2, 9 Chen L.... Oshima J. (2003)
    10. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. (PubMed id 12628721)1, 2, 9 Taylor M.R.G.... Mestroni L. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4000 HGNC: 6636 AceView: LMNA Ensembl:ENSG00000160789 euGenes: HUgn4000
    ECgene: LMNA Kegg: 4000 H-InvDB: LMNA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LMNA Pharmacogenomics, SNPs, Pathways
    LEIDEN Muscular Dystrophy page for LMNA Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LMNA

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LMNA gene:
    Search GeneIP for patents involving LMNA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    (lamin A/C)

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     Proteins for LMNA
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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