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    LAMA2 laminin, alpha 2 [ Homo sapiens ]

    Gene ID: 3908, updated on 19-May-2012
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    Summary

    Official Symbol
    LAMA2provided by HGNC
    Official Full Name
    laminin, alpha 2provided by HGNC
    Primary source
    HGNC:6482
    Locus tag
    RP1-69D17.2
    See related
    Ensembl:ENSG00000196569; HPRD:01125; MIM:156225; Vega:OTTHUMG00000015545
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LAMM
    Summary
    Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    6q22-q23
    Sequence :
    Chromosome: 6; NC_000006.11 (129204286..129837711)
    See LAMA2 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 delta pseudogene 5 Neighboring gene ribosomal protein L21 pseudogene 64 Neighboring gene mesoderm specific transcript homolog (mouse) pseudogene 1 Neighboring gene bone morphogenetic protein receptor, type IA pseudogene 1 Neighboring gene Rho GTPase activating protein 18 Neighboring gene ribosomal protein L5 pseudogene 21

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype? Carboni N, et al. Muscle Nerve, 2011 Nov. PMID 22006699.
    2. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. Gavassini BF, et al. Muscle Nerve, 2011 Nov. PMID 21953594.
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    4. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Xu B, et al. Nat Genet, 2011 Aug 7. PMID 21822266.
    5. [Merosin-deficient congenital muscular dystrophy]. Dadali EL, et al. Zh Nevrol Psikhiatr Im S S Korsakova, 2010. PMID 20607928.

    See all (55) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. This largest series of patients with limb-girdle muscular dystrophy due to laminin alpha2-deficiency expands the clinical phenotype associated with LAMA2 mutations.
      Title: Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
    2. This is the first report to describe dilated cardiomyopathy with conduction defects and merosin deficiency in a patient carrying LAMA2 gene mutations.
      Title: Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype?
    3. A single base deletion at position 8005 in the LAMA2 gene is associated with a severe form of classical congenital muscular dystrophy and partial merosin deficiency in congenital muscular dystrophy type 1A.
      Title: Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.
    4. LAMA2 mutations were found in three different Russian families with congenital muscular dystrophy.
      Title: [Merosin-deficient congenital muscular dystrophy].
    5. This large study identified novel LAMA2 mutations and highlights the role of immunohistochemical studies for merosin status in predicting clinical severity of MDC1A.
      Title: Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Data show that the expression of collagen types I, III and fibronectin was significantly higher in pancreatic cancer, and the expression of collagen type IV, laminin and vitronectin was significantly lower in pancreatic cancer.
      Title: Promotion of tumor cell migration by extracellular matrix proteins in human pancreatic cancer.
    8. Ku70 is a regulator of Bax-mediated pathogenesis in laminin-alpha2-deficiency muscle cells.
      Title: Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy.
    9. Crystal structure shows that the three LG domains adopt typical beta-sandwich folds, with canonical calcium binding sites in LG1 and LG2. LG2 and LG3 interact through a substantial interface, but LG1 is completely dissociated from the LG2-3 pair.
      Title: Crystal structure of the LG1-3 region of the laminin alpha2 chain.
    10. In patient 1, a double mutation, c.[9101_9104dupAACA:3412G>A] p.[H3035QfsX4:V1138M] was detected, Patient 2 had a novel homozygous nonsense mutation, c.2907C>A (p.Cys969X), in exon 21.
      Title: Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China.
    Submit: New GeneRIF Correction See all (24)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Genome-wide association study of height and body mass index in Australian twin families.

    Muscular dystrophy, congenital, due to partial LAMA2 deficiency

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 inhibits CD3-triggered T cell co-stimulation by the extracellular matrix (ECM) proteins, which includes laminins PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 inhibits CD3-triggered T cell co-stimulation by the extracellular matrix (ECM) proteins, which includes laminins PubMed
    Tat tat HIV-1 Tat upregulates the expression of extracellular matrix proteins, including the major basement membrane protein laminin PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000417.2 NP_004384.1 DAG1    BIND  PubMed Alpha-DG interacts with Laminin alpha 2. This interaction was modeled on a demonstrated interaction between rabbit alpha-DG and human Laminin alpha 2. 
    P24043 Q14118 DAG1    HPRD  PubMed  
    P24043 P08865 RPSA    HPRD  PubMed  
    BioGRID:110102 BioGRID:158770 DAG1    BioGRID  PubMed Far Western 
    BioGRID:110102 BioGRID:107975 DAG1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110102 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem"Integrins are cell surface heterodimeric protein complex consisting of one alpha and one beta chain. Integrins act as cell adhesion molecules as well as participate in cellular signaling. The ligand...
    • Amoebiasis, organism-specific biosystem (from KEGG)
      Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Amoebiasis, conserved biosystem (from KEGG)
      Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • ECM-receptor interaction, organism-specific biosystem (from KEGG)
      ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • ECM-receptor interaction, conserved biosystem (from KEGG)
      ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
      Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Small cell lung cancer, organism-specific biosystem (from KEGG)
      Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Small cell lung cancer, conserved biosystem (from KEGG)
      Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Toxoplasmosis, organism-specific biosystem (from KEGG)
      Toxoplasmosis, organism-specific biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Toxoplasmosis, conserved biosystem (from KEGG)
      Toxoplasmosis, conserved biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Viral myocarditis, organism-specific biosystem (from KEGG)
      Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    structural molecule activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    muscle organ development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    positive regulation of synaptic transmission, cholinergic IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    basal lamina IEA
    Inferred from Electronic Annotation
    more info
    		  
    basement membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    laminin-1 complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    laminin subunit alpha-2
    Names
    laminin subunit alpha-2
    laminin M chain
    merosin heavy chain
    laminin-2 subunit alpha
    laminin-4 subunit alpha
    laminin-12 subunit alpha
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008678.1 RefSeqGene

      Range
      5001..638426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000426.3 → NP_000417.2  laminin subunit alpha-2 isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB208922, AL041786, BM984634, CN414799, DA864571, DB106101, Z26653
      Consensus CDS
      CCDS5138.1
      UniProtKB/Swiss-Prot
      P24043
      UniProtKB/TrEMBL
      Q59H37
      Related
      ENSP00000400365, OTTHUMP00000017189, ENST00000421865, OTTHUMT00000042180
      Conserved Domains (10) summary
      cd00055
      Location:917 – 963
      Blast Score: 146
      EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
      cd00110
      Location:2766 – 2915
      Blast Score: 325
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      cl01972
      Location:1808 – 1908
      Blast Score: 105
      DUF948; Bacterial protein of unknown function (DUF948)
      TIGR02168
      Location:1766 – 2077
      Blast Score: 175
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam06008
      Location:1588 – 1853
      Blast Score: 638
      Laminin_I; Laminin Domain I
      smart00180
      Location:967 – 1011
      Blast Score: 158
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      cl02548
      Location:578 – 710
      Blast Score: 399
      Laminin_B; Laminin B (Domain IV)
      pfam00053
      Location:1420 – 1466
      Blast Score: 138
      Laminin_EGF; Laminin EGF-like (Domains III and V)
      pfam06009
      Location:2037 – 2173
      Blast Score: 421
      Laminin_II; Laminin Domain II
      cl02806
      Location:39 – 285
      Blast Score: 837
      Laminin_N; Laminin N-terminal (Domain VI)

    2. NM_001079823.1 → NP_001073291.1  laminin subunit alpha-2 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AB208922, AL041786, BM984634, CN414799, DA864571, DB106101, Z26653
      UniProtKB/Swiss-Prot
      P24043
      UniProtKB/TrEMBL
      Q59H37
      Related
      ENSP00000350717, ENST00000358023
      Conserved Domains (10) summary
      cd00055
      Location:917 – 963
      Blast Score: 146
      EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
      cd00110
      Location:2762 – 2911
      Blast Score: 325
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      cl01972
      Location:1808 – 1908
      Blast Score: 105
      DUF948; Bacterial protein of unknown function (DUF948)
      TIGR02168
      Location:1766 – 2077
      Blast Score: 175
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam06008
      Location:1588 – 1853
      Blast Score: 638
      Laminin_I; Laminin Domain I
      smart00180
      Location:967 – 1011
      Blast Score: 158
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      cl02548
      Location:578 – 710
      Blast Score: 399
      Laminin_B; Laminin B (Domain IV)
      pfam00053
      Location:1420 – 1466
      Blast Score: 137
      Laminin_EGF; Laminin EGF-like (Domains III and V)
      pfam06009
      Location:2037 – 2173
      Blast Score: 421
      Laminin_II; Laminin Domain II
      cl02806
      Location:39 – 285
      Blast Score: 837
      Laminin_N; Laminin N-terminal (Domain VI)

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p5 Primary Assembly

      Range
      129204286..129837711
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      126785527..127418362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL356124.17 CAI22470.1
    genomic AL445439.9 CAH72952.1
    genomic AL513527.9 CAI15185.1
    genomic AL583853.6 CAH70492.1
    genomic AL589927.3 (100..21459) None
    genomic AL590613.6 CAH70771.1
    genomic AL669984.1 CAI16682.1
    genomic CH471051.2 EAW48080.1
      EAW48081.1
      EAW48082.1
    genomic U66796.1 AAB18388.1
    mRNA AB208922.1 BAD92159.1
    mRNA AK026829.1 None
    mRNA AL041786.1 None
    mRNA BM984634.1 None
    mRNA CA421469.1 None
    mRNA CN414799.1 None
    mRNA DA864571.1 None
    mRNA DB106101.1 None
    mRNA M59832.1 AAA63215.1
    mRNA Z26653.1 CAA81394.1
    other-genetic BC172257.1 AAI72257.1
    other-genetic BC172564.1 AAI72564.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P24043.4 GenPept UniProtKB/Swiss-Prot:P24043
    Q59H37 GenPept UniProtKB/TrEMBL:Q59H37
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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