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LMNA Gene

protein-coding   GIFtS: 75
GCID: GC01P156053

Lamin A/C

(Previous names: cardiomyopathy, dilated 1A (autosomal dominant), limb girdle...)
(Previous symbols: LMN1, CMD1A, LGMD1B, PRO1, LMNL1)
  See LMNA-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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     FPLD2
Lamin A/C-Like 11 2     IDC2
EMD22 5     LDP12
FPLD22 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   
ORGUL members:         

Export aliases for LMNA gene to outside databases

Previous GC identifers: GC01P153921 GC01P151817 GC01P152830 GC01P153301 GC01P152897 GC01P154318 GC01P127446


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 laminopathy type decaudain-vigouroux, and lmna-related cardiocutaneous progeria syndrome. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is DES.

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. Required for normal development
of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation. Required for
osteoblastogenesis and bone formation. Also prevents fat infiltration of muscle and bone marrow, helping to
maintain the volume and strength of skeletal muscle and bone
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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the LMNA gene promoter:
         STAT1   STAT1beta   STAT1alpha   
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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.
Interacts with SUV39H1; the interaction increases stability of SUV39H1
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;
Selected PDB 3D structures from and Proteopedia for LMNA (see all 9):
1IFR (3D)        1IVT (3D)        1X8Y (3D)        2XV5 (3D)        2YPT (3D)        3GEF (3D)    
Secondary accessions: B4DI32 D3DVB0 D6RAQ3 E7EUI9 P02546 Q5I6Y4 Q5I6Y6 Q5TCJ2 Q5TCJ3 Q6UYC3
Q969I8 Q96JA2
Alternative splicing: 6 isoforms:  P02545-1   P02545-2   P02545-3   P02545-4   P02545-5   P02545-6   (Disease-associated isoform. Polymorphism at codon 608 results in activation of a cryptic splice donor site within exon 11, resulting in a truncated protein product that lacks the site for endoproteolytic cleavage)

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

Explore proteomics data for LMNA at MOPED

Post-translational modifications: 

  • Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in
    regulating lamin associations1
  • 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 cleavage1
  • Sumoylation is necessary for the localization to the nuclear envelope1
  • Farnesylation of prelamin-A/C facilitates nuclear envelope targeting1
  • Ubiquitination2 at Lys78, Lys108, Lys135, Lys144, Lys171, Lys181, Lys201, Lys208, Lys265, Lys270,
                                 Lys311, Lys378, Lys470, Lys486
  • Modification sites at PhosphoSitePlus

  • See LMNA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    LMNA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for LMNA
    OriGene Protein Over-expression Lysate for OriGene Protein Over-expression Lysate for LMNA (NM_005572  NM_170707  )
    OriGene MassSpec for LMNA
    OriGene Custom Protein Services for LMNA
    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

     
    Search eBioscience for Proteins for LMNA 

     
    antibodies-online proteins for LMNA (4 products) 

     
    antibodies-online peptides for LMNA

    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
    OriGene Custom Antibody Services for LMNA
    Novus Biologicals LMNA Antibodies
    Abcam antibodies for LMNA (Q6UYC3, P20700, P02545)
    Cloud-Clone Corp. Antibodies for LMNA
    ThermoFisher Antibody for LMNA
    antibodies-online antibodies for LMNA (209 products) 

    LMNA Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for LMNA
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for LMNA
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LMNA
    Cloud-Clone Corp. CLIAs for LMNA
    Search eBioscience for ELISAs for LMNA 
    antibodies-online kits for LMNA (18 products) 


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

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     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


    Find genes that share domains with LMNA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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. Required for normal development
    of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation. Required for
    osteoblastogenesis and bone formation. Also prevents fat infiltration of muscle and bone marrow, helping to
    maintain the volume and strength of skeletal muscle and bone
    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity TAS3453101
    GO:0005515protein binding IPI10381623
         
    Find genes that share ontologies with LMNA           About GenesLikeMe


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

         Selected 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/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

    Find genes that share phenotypes with LMNA           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for LMNA

    miRNA
    Products:
        
    miRTarBase miRNAs that target LMNA:
    hsa-mir-615-3p (MIRT040169), hsa-mir-296-3p (MIRT038445), hsa-let-7a-5p (MIRT052409), hsa-mir-340-5p (MIRT019532), hsa-mir-124-3p (MIRT022394), hsa-mir-9-5p (MIRT021388), hsa-let-7e-5p (MIRT051592)

    Block miRNA regulation of human, mouse, rat LMNA using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for LMNA
    Predesigned siRNA for gene silencing in human, mouse, rat LMNA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LMNA

    Clone
    Products:
         
    OriGene clones in human, mouse for LMNA (see all 18)
    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
    Addgene plasmids for LMNA 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for LMNA
    Browse ESI BIO Cell Lines and PureStem Progenitors for LMNA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LMNA_HUMAN, P02545: Nucleus. Nucleus envelope. Nucleus lamina. Nucleus, nucleoplasm. 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
    LMNA_HUMAN, P02545: Isoform C: Nucleus speckle
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    cytoskeleton2
    extracellular1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    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--

    Find genes that share ontologies with LMNA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for LMNA About   (see all 21)  
    See pathways by source

    SuperPathContained pathways About
    1Apoptosis and survival Caspase cascade
    Apoptosis and survival Caspase cascade0.44
    Caspase cascade in apoptosis0.42
    Apoptosis and survival FAS signaling cascades0.44
    Breakdown of the nuclear lamina0.00
    FAS pathway and Stress induction of HSP regulation0.44
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.54
    3Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    4Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    5Nuclear Envelope Reassembly
    Nuclear Envelope Reassembly
    Initiation of Nuclear Envelope Reformation0.00
    Clearance of Nuclear Envelope Membranes from Chromatin0.00


    Find genes that share SuperPaths with LMNA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe 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


    1 Reactome Pathway for LMNA
        XBP1(S) activates chaperone genes

    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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for LMNA

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

    Selected Interacting proteins for LMNA (P025451, 2, 3 ENSP000003572834) via UniProtKB, MINT, STRING, and/or I2D (see all 1002)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST2H3AQ71DI31, 2, 3, ENSP000003854794EBI-351935,EBI-750650 MINT-7893990 MINT-7893924 MINT-7894005 MINT-7894023 MINT-7893941 MINT-7894038 I2D: score=1 STRING: ENSP00000385479
    HIST2H3CQ71DI31, 2, 3EBI-351935,EBI-750650 MINT-7893990 MINT-7893924 MINT-7894005 MINT-7894023 MINT-7893941 MINT-7894038 I2D: score=1 
    HIST2H3DQ71DI31, 2, 3EBI-351935,EBI-750650 MINT-7893990 MINT-7893924 MINT-7894005 MINT-7894023 MINT-7893941 MINT-7894038 I2D: score=1 
    DDX39BQ138382, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000215425Q138382, 3MINT-7945693 MINT-7947479 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    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 ----

    Find genes that share ontologies with LMNA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LMNA

    Selected 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)



    Find genes that share compounds with LMNA           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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)

    miRNA
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    Block miRNA regulation of human, mouse, rat LMNA using miScript Target Protectors
    Selected qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for LMNA
    Predesigned siRNA for gene silencing in human, mouse, rat LMNA
    Clone
    Products:
         
    OriGene clones in human, mouse for LMNA (see all 18)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LMNA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMNA
    Addgene plasmids for LMNA 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for LMNA
    OriGene qSTAR qPCR primer pairs in human, mouse for LMNA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LMNA
      QuantiTect SYBR Green Assays in human, mouse, rat LMNA
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 1597):

    CB150408 AL602697 BU528517 BU626255 BG831209 BU190818 BQ689214 BU543235 
    BM913668 CA436010 BM828139 AI654262 BQ219558 BQ215790 CD674183 BU178121 
    BM836839 BM763030 BE311540 AW245428 AU120748 BM837113 CB130594 BM785968 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LMNA expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 28) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 4 entries
             Primary Oocyte Primary Follicle
             Oviduct
             Secondary follicles
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Dermis (Integumentary System)    fully expand to see all 3 entries
             Dermal Fibroblasts Dorsal Dermis
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    LMNA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LMNA Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LMNA
    QuantiTect SYBR Green Assays in human, mouse, rat LMNA
    QuantiFast Probe-based Assays in human, mouse, rat LMNA
    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for LMNA gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lmna1 , 5 lamin A1, 5 90.15(n)1
    96.53(a)1
      3 (38.84 cM)5
    169051  NM_001002011.31  NP_001002011.21 
     884811485 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    47(a)
    many ↔ many
    10(10954013-10971823)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    67(a)
    57(a)
    1 ↔ many
    1 ↔ many
    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)
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    Paralogs for LMNA gene
    DES2  NEFM2  LMNB12  VIM2  INA2  LMNB22  NEFH2  GFAP2  
    PRPH2  
    5 SIMAP similar genes for LMNA using alignment to 5 protein entries:     LMNA_HUMAN (see all proteins):
    LMNB1    LMNB2    VIM    KRT5    keratin

    Find genes that share paralogs with LMNA           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LMNA (see all 1431)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs583275331,2,,4
    CEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)4 untested1162585673(+) CCACCC/G/TGCATC 11 R G C nc-transcript-variantmis10--------
    rs289289031,2,,4
    CCardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH)4 pathogenic1162585769(+) AGAACC/GCAGGG 7 P A nc-transcript-variantmis1 ese30--------
    rs289289001,2,,4
    CLipodystrophy, familial partial, 2 (FPLD2)4 pathogenic1162585778(+) GGCTGC/GGCCTT 7 R G nc-transcript-variantmis1 ese30--------
    rs577937371,2,,4
    CEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)4 untested1162585788(+) TCGCAA/G/TCACCG 11 N S I nc-transcript-variantmis10--------
    rs289330901,2,,4
    CCardiomyopathy, dilated 1A (CMD1A)4 pathogenic1162585854(+) CGAGCG/TCGGGG 7 R L nc-transcript-variantmis10--------
    rs608642301,2,,4
    CEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)4 pathogenic1162601334(+) GGCTCC/G/TGCTGA 16 P R L mis10--------
    rs606522251,2,,4
    CHutchinson-Gilford progeria syndrome (HGPS)4 pathogenic1162601355(+) GGCTCC/G/TGCTGA 16 P R L mis10--------
    rs589126331,2,,4
    CHutchinson-Gilford progeria syndrome (HGPS)4 pathogenic1162601364(+) GAACTC/TCAAGG 10 S F mis10--------
    rs603102641,2,,4
    CHutchinson-Gilford progeria syndrome (HGPS)4 pathogenic1162601369(+) CCAAGA/GAGGCC 10 K E mis10--------
    rs289330931,2,,4
    CCardiomyopathy, dilated 1A (CMD1A)4 pathogenic1162601417(+) AGGGCA/GAGCTG 10 K E mis10--------

    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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 150330   
    OMIM disorders: 181350  115200  151660  605588  613205  159001  248370  176670  275210  610140  212112  
    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 degeneration 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 truncated form of lamin-A/C. This mutant protein,
    called progerin (isoform 6), acts to deregulate mitosis and DNA damage signaling, leading to premature cell death
    and senescence. The mutant form is mainly generated by a silent or missense mutation at codon 608 of prelamin A
    that causes activation of a cryptic splice donor site, resulting in production of isoform 6 with a deletion of 50
    amino acids near the C terminus. 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 (PubMed:12714972)
  • 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
  • Note=Defects in LMNA may cause a late-onset cardiocutaneous progeria syndrome characterized by cutaneous
    manifestations of aging appearing in the third decade of life, cardiac valve calcification and dysfunction,
    prominent atherosclerosis, and cardiomyopathy, leading to death on average in the fourth decade

  • Selected diseases for LMNA (see all 51):    
    About MalaCards
    laminopathy type decaudain-vigouroux    lmna-related cardiocutaneous progeria syndrome    lipodystrophy, familial partial, type 2    progeria-associated arthropathy
    familial partial lipodystrophy, kobberling type    cardiomyopathy, dilated, 1a    lmna-related emery-dreifuss muscular dystrophy, autosomal    dilated cardiomyopathy with quadriceps myopathy
    progeria    emery-dreifuss muscular dystrophy    autosomal codominant severe lipodystrophic laminopathy    atypical werner syndrome
    charcot-marie-tooth neuropathy type 2b1    congenital muscular dystrophy    lmna-related muscle diseases    mandibuloacral dysplasia
    familial partial lipodystrophy    charcot-marie-tooth disease type 2b1    mandibuloacral dysplasia with type a lipodystrophy    emery-dreifuss muscular dystrophy 2, ad

    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

    Find genes that share disorders with LMNA           About GenesLikeMe

    Selected 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)
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    PubMed articles for LMNA gene, integrated from 10 sources (see all 818):
    (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. (J. Med. Genet. 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. (Am. J. Cardiol. 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. (J. Hum. Genet. 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. (Diabetes 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. (Am. Heart J. 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. (J. Am. Coll. Cardiol. 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. (Diabetes 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. (Arterioscler. Thromb. Vasc. Biol. 2004)
    9. LMNA mutations in atypical Werner's syndrome. (PubMed id 12927431)1, 2, 9 Chen L.... Oshima J. (Lancet 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. (J. Am. Coll. Cardiol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4000 HGNC: 6636 AceView: LMNA Ensembl:ENSG00000160789 euGenes: HUgn4000
    ECgene: LMNA Kegg: 4000 H-InvDB: LMNA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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/books/NBK1116/?term=LMNA[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LMNA gene:
    Search GeneIP for patents involving LMNA

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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     Browse Purified and Recombinant Proteins at EMD Millipore
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     Block miRNA regulation of human, mouse, rat LMNA using miScript Target Protectors SeqTarget long-range PCR primers for resequencing LMNA
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LMNA Predesigned siRNA for gene silencing in human, mouse, rat LMNA
     QuantiFast Probe-based Assays in human, mouse, rat LMNA QuantiTect SYBR Green Assays in human, mouse, rat LMNA
     PCR Arrays including human, mouse, rat LMNA Search Chromatin IP Primers for LMNA
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LMNA  GeneGlobe Interaction Network for LMNA
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     GenScript Custom Purified and Recombinant Proteins Services for LMNA GenScript cDNA clones with any tag delivered in your preferred vector for LMNA
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    (lamin A/C)

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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
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     Browse ESI BIO Cell Lines and PureStem Progenitors for LMNA
     Gene Synthesis
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     SwitchGear 3'UTR luciferase reporter plasmids for LMNA
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMNA
     Browse compounds at ApexBio
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      Search eBioscience for proteins for LMNA
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      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for LMNA
     antibodies-online antibodies for LMNA (209 products)
     antibodies-online kits for LMNA (18 products)
     antibodies-online peptides for LMNA
     antibodies-online proteins for LMNA (4 products)
           
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