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

LMNA Gene

protein-coding   GIFtS: 71
GCID: GC01P156053

lamin A/C

(Previous names: cardiomyopathy, dilated 1A (autosomal dominant), limb girdle...)
(Previous symbols: LMN1, CMD1A, LGMD1B, PRO1, LMNL1)
 Explore 126 diseases affiliated with
LMNA via our new
 Human Malady Compendium 
Biological research products
for LMNA
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Lamin A/C1 2     70 KDa Lamin2
LMN11 2 3 5     CDCD12
CMD1A1 2 5     CDDC2
HGPS1 2 5     CMT2B12
LGMD1B1 2 5     FPL2
LMNL11 2     FPLD22
PRO11 2     IDC2
Lamin A/C-Like 11 2     LDP12
EMD22 5     LFP2
FPLD2 5     LMNC2
Cardiomyopathy, Dilated 1A (Autosomal Dominant)1     Lamin1
Limb Girdle Muscular Dystrophy 1B (Autosomal Dominant)1     Prelamin-A/C1
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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P02545

  • LMNA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001244303.1  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: 
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    Novus Biologicals LMNA Protein
    Novus Biologicals LMNA Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for LMNA
    Uscn Proteins for LMNA

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005626insoluble fraction ----
    GO:0005634nucleus IDA--
    GO:0005635nuclear envelope TAS--
    GO:0005638lamin filament TAS10080180
    GO:0005652nuclear lamina TAS8344919


    LMNA for ontologies           About GeneDecksing



    LMNA Antibody Products: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    LMNA for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    IPB001322 Intermediate filament
    IPB001664 Intermediate filament protein


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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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

    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
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LMNA (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LMNA

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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNA

    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 TAS8344919
    GO:0005515protein binding IPI10727209


    LMNA for ontologies           About GeneDecksing


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

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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/20 super-pathways (see all 20About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptosis and survival_Caspase cascade
    Apoptosis and survival_Caspase cascade1.00
    Apoptosis and survival FAS signaling cascades0.44
    Apoptosis and survival Caspase cascade1.00
    Caspase cascade in apoptosis0.42
    Apoptosis and survival_FAS signaling cascades0.44
    FAS pathway and Stress induction of HSP regulation0.33
    2Clearance of Nuclear Envelope Membranes from Chromatin
    Clearance of Nuclear Envelope Membranes from Chromatin1.00
    Nuclear Envelope Breakdown0.56
    Initiation of Nuclear Envelope Reformation0.69
    Mitotic Prophase0.26
    Nuclear Envelope Reassembly0.69
    3M Phase
    M Phase1.00
    Mitotic Metaphase and Anaphase0.85
    Mitotic M-M/G1 phases0.88
    Mitotic Anaphase0.85
    4Meiotic Synapsis
    Meiotic Synapsis1.00
    Meiosis0.70
    Telomere clustering at the nuclear membrane0.82
    Chromosome Maintenance0.56
    5Activation of Chaperone Genes by XBP1(S)
    Activation of Chaperone Genes by XBP1(S)1.00
    Unfolded Protein Response0.71
    Activation of Chaperones by IRE1alpha0.94

    Pathway sources
    See GeneCards unified pathways
    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 
        FAS pathway and Stress induction of HSP regulation
    Adipogenesis
    Arrhythmogenic right ventricular cardiomyopathy
    Caspase cascade in apoptosis

    5/24        Reactome Pathways for LMNA (see all 24)
        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)

    5/921 Interacting proteins for LMNA (P025451, 2, 3 ENSP000003572834) via UniProtKB, MINT, STRING, and/or I2D (see all 921)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST2H3AQ71DI32, 3, ENSP000003854794MINT-7893990 MINT-7893924 MINT-7894005 MINT-7894023 MINT-7893941 MINT-7894038 I2D: score=1 STRING: ENSP00000385479
    HIST2H3CQ71DI32, 3MINT-7893990 MINT-7893924 MINT-7894005 MINT-7894023 MINT-7893941 MINT-7894038 I2D: score=1 
    HIST2H3DQ71DI32, 3MINT-7893990 MINT-7893924 MINT-7894005 MINT-7894023 MINT-7893941 MINT-7894038 I2D: score=1 
    ACTBP607092, 3, ENSP000003499604MINT-7945693 MINT-7899812 MINT-7947479 I2D: score=2 STRING: ENSP00000349960
    H2AFXP161042, 3, ENSP000003643104MINT-8361862 MINT-7899812 I2D: score=2 STRING: ENSP00000364310
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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 ----
    GO:0006998nuclear envelope organization IEA--


    LMNA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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    About This Section

    REFSEQ mRNAs for LMNA gene (4 alternative transcripts): 
    NM_001257374.1  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)
    ENST00000470199 ENST00000478063 ENST00000469565 ENST00000368299 ENST00000502357
    ENST00000448611(uc010pgz.1) ENST00000515459 ENST00000368297 ENST00000504687
    ENST00000473598 ENST00000515824 ENST00000496738(uc001fnj.2 uc010pha.1)


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    Inhib. RNA
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMNA 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMNA

    Additional cDNA 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.100891740  DT.92469913  DT.100891733  DT.92057489  DT.101986435  DT.121347131  DT.121347084  DT.100891726 
    DT.95322263  DT.99987681  DT.121347143  DT.121347120  DT.100891698  DT.100039687  DT.100891751  DT.320389 

    1597 AceView cDNA sequences (see top 24):

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

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    LMNA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular NodeAtrioventricular Node CellsMyocardium
    OvaryPrimary FolliclePrimary OocyteFemale Gametocytes, Germ Cells
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Secondary follicles (Primary Cell)Ovary, Reproductive System

    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
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LMNA
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMNA
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    (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 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    73(a)
    55(a)
    1 ↔ many
    1 ↔ many
    GL344336.1(8415-20568)
    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   --


    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  SYNM2  VIM2  INA2  NES2  PRPH2  DES2  NEFM2  
    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, UniProtKB, 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

    10/1087 NCBI SNPs in LMNA are shown (see all 1087    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs115496691,2
    Cnon-pathogenic156084714(+) CATGGA/GGACCC 7 E G mis1 ese30--------
    rs115496681,2
    C,F,non-pathogenic156084760(+) GCCAGC/TTCCAC 7 S syn15Minor allele frequency- T:0.01NA NS EU 2677
    rs413138801,2
    C,F,non-pathogenic156100408(+) TTTAGC/TAATAC 10 C R syn12Minor allele frequency- T:0.00NA EU 5759
    rs803568051,2
    C,F,non-pathogenic156100489(+) GAGGCC/TGCACT 10 A syn13Minor allele frequency- T:0.01CSA NA 4524
    rs121175521,2
    C,F,H,non-pathogenic156104292(+) GAACTG/AGACTT 10 /L nc-transcript-variantsyn112Minor allele frequency- A:0.01NS EA NA EU 7141
    rs112644421,2
    C,F,non-pathogenic156104375(+) CTTGGA/G/TCTGGG 6 -- int17NA WA EA EU 1608
    rs112644431,2
    C,non-pathogenic156104392(+) NNNNCC/TAGCTG 6 -- int15Minor allele frequency- T:0.05NA WA EA 362
    rs803568071,2
    Cnon-pathogenic156104586(+) CTCCAA/C/GCCCTT 6 -- int10--------
    rs115496661,2
    C,Hnon-pathogenic156104647(+) TTGACA/CATGGG 10 N H mis1 ese34Minor allele frequency- C:0.00NS EA 406
    rs582358101,2
    Cnon-pathogenic156104679(+) CGGCTA/GGCGGA 10 L nc-transcript-variantsyn10--------

    HapMap Linkage Disequilibrium report for LMNA (156052364 - 156109880 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for LMNA: --
    Human Gene Mutation Database (HGMD): LMNA

    Locus Specific Mutation Databases (LSDB): LMNA

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    LMNA for disorders           About GeneDecksing

    OMIM gene information: 150330   
    OMIM disorders: 181350  115200  151660  605588  159001  248370  176670  275210  610140  
    UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545
  • Defects in LMNA are the cause of Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2)
  • [MIM:181350]. 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
  • Defects in LMNA are the cause of Emery-Dreifuss muscular dystrophy type 3, autosomal recessive (EDMD3)
  • [MIM:181350]
  • Defects in LMNA are the cause of cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]. Dilated cardiomyopathy
  • is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart
    failure and arrhythmia. Patients are at risk of premature death
  • Defects in LMNA are the cause of familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]; also known as
  • familial partial lipodystrophy Dunnigan type. 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
  • Defects in LMNA are the cause of limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001]. LGMD1B is an
  • autosomal dominant degenerative myopathy with age-related atrioventricular cardiac conduction disturbances, dilated
    cardiomyopathy, and the absence of early contractures. LGMD1B is characterized by slowly progressive skeletal muscle
    weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes
  • Defects in LMNA are the cause of Charcot-Marie-Tooth disease type 2B1 (CMT2B1) [MIM:605588]. CMT2B1 is a form
  • of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system.
    Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and
    histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or 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. CMT2B1 inheritance is autosomal recessive
  • Defects in LMNA are the cause of Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]. HGPS is a rare
  • genetic disorder characterized by features reminiscent of marked premature aging. Note=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
  • Defects in LMNA are the cause of 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
  • Defects in LMNA are the cause of mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]. A
  • disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture,
    progeroide 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
  • Defects in LMNA are a cause of lethal tight skin contracture syndrome (LTSCS) [MIM:275210]; also known as
  • restrictive dermopathy (RD). Lethal tight skin contracture syndrome is a 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
  • Defects in LMNA are the cause of 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
  • Defects in LMNA are the cause of muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]. It is 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

    20/126 diseases for LMNA (see all 126):    About MalaCards
    limb-girdle muscular dystrophy    emery-dreifuss muscular dystrophy    charcot-marie-tooth disease    muscular dystrophy
    progeria    charcot-marie-tooth disease type 2b1    charcot-marie-tooth disease type 2    emery-dreifuss muscular dystrophy, ar
    emery-dreifuss muscular dystrophy, ad    pelger-huet anomaly    cardiomyopathy    familial partial lipodystrophy
    dilated cardiomyopathy    charcot-marie-tooth neuropathy    heart-hand syndrome, slovenian type    proximal spinal muscular atrophy
    lipodystrophy    tooth disease    charcot-marie-tooth neuropathy type 2    restrictive dermopathy

    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

    10/73 Novoseek 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
    Charcot-Marie-Tooth Neuropathy Type 2
    Emery-Dreifuss Muscular Dystrophy
    LMNA-Related Dilated Cardiomyopathy
    Hutchinson-Gilford Progeria
    Dilated Cardiomyopathy

    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 763):
    (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. 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)
    5. Variation in the lamin A/C gene: associations with metabolic syndrome. (PubMed id 15205219)1, 4, 9 Steinle N.I....Shuldiner A.R. (2004)
    6. LMNA mutations in atypical Werner's syndrome. (PubMed id 12927431)1, 2, 9 Chen L.... Oshima J. (2003)
    7. 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)
    8. Novel and recurrent mutations in lamin A/C in patients with Emery- Dreifuss muscular dystrophy. (PubMed id 11503164)1, 2, 9 Brown C.A.... Spence J.E. (2001)
    9. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. (PubMed id 10655060)1, 2, 9 Shackleton S.... Trembath R.C. (2000)
    10. Collagen expression in fibroblasts with a novel LMNA mutation. (PubMed id 17150192)1, 2, 9 Nguyen D....Oshima J. (2007)

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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