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    LAMA2 laminin subunit alpha 2 [ Homo sapiens (human) ]

    Gene ID: 3908, updated on 10-Oct-2023

    Summary

    Official Symbol
    LAMA2provided by HGNC
    Official Full Name
    laminin subunit alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:6482
    See related
    Ensembl:ENSG00000196569 MIM:156225; AllianceGenome:HGNC:6482
    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; MDC1A
    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]
    Expression
    Biased expression in placenta (RPKM 30.7), ovary (RPKM 13.2) and 11 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See LAMA2 in Genome Data Viewer
    Location:
    6q22.33
    Exon count:
    65
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (128883138..129516566)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (130076331..130710229)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (129204283..129837711)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377998 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:128976681-128977880 Neighboring gene ribosomal protein L21 pseudogene 64 Neighboring gene NANOG hESC enhancer GRCh37_chr6:129057924-129058437 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:129064821-129065546 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:129065547-129066272 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:129066852-129067489 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:129067490-129068126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25043 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17531 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:129162326-129163525 Neighboring gene mesoderm specific transcript pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:129493212-129493926 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:129493927-129494640 Neighboring gene bone morphogenetic protein receptor type 1A pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:129561118-129561327 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:129572793-129572997 Neighboring gene NANOG hESC enhancer GRCh37_chr6:129691636-129692145 Neighboring gene NANOG hESC enhancer GRCh37_chr6:129761748-129762353 Neighboring gene uncharacterized LOC124901401 Neighboring gene RNA, U6 small nuclear 861, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:129811717-129812916 Neighboring gene uncharacterized LOC102723409 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:129822854-129824053 Neighboring gene Sharpr-MPRA regulatory region 13537 Neighboring gene MPRA-validated peak6120 silencer Neighboring gene Rho GTPase activating protein 18 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17533 Neighboring gene Sharpr-MPRA regulatory region 14599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25049 Neighboring gene ribosomal protein L5 pseudogene 21

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Genome-wide association study of height and body mass index in Australian twin families.
    EBI GWAS Catalog
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    EBI GWAS Catalog
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    EBI GWAS Catalog
    Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.
    EBI GWAS Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    HIV-1 interactions

    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 Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution PubMed
    tat HIV-1 Tat enhances adhesion of human U937 monocyte-like cells to proteins of the extracellular matrix, such as collagen IV, laminin, and ECM1 PubMed
    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 Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables structural molecule activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in basement membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basement membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein complex involved in cell-matrix adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synaptic cleft IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    laminin subunit alpha-2
    Names
    laminin M chain
    laminin, alpha 2
    laminin-12 subunit alpha
    laminin-2 subunit alpha
    laminin-4 subunit alpha
    merosin heavy chain
    mutant laminin subunit alpha 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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), LRG_409

    mRNA and Protein(s)

    1. NM_000426.4NP_000417.3  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, AL356124, AL445439, BM984634, CN414799, DA864571, DB106101, Z26653
      Consensus CDS
      CCDS5138.1
      UniProtKB/Swiss-Prot
      P24043, Q14736, Q5VUM2, Q93022
      UniProtKB/TrEMBL
      A0A087WX80
      Related
      ENSP00000400365.2, ENST00000421865.3
    2. NM_001079823.2NP_001073291.2  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)
      AL356124, AL445439, AL513527, AL583853, AL590613, AL669984
      Consensus CDS
      CCDS93999.1
      UniProtKB/TrEMBL
      A0A087WX80, A0A087WYF1
      Related
      ENSP00000481744.2, ENST00000617695.5
      Conserved Domains (10) summary
      smart00180
      Location:9671011
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      smart00281
      Location:12291364
      LamB; Laminin B domain
      COG1340
      Location:17402005
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00055
      Location:917965
      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:29373089
      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 ...
      pfam06008
      Location:15931852
      Laminin_I; Laminin Domain I
      pfam00054
      Location:27892917
      Laminin_G_1; Laminin G domain
      pfam00053
      Location:10601108
      Laminin_EGF; Laminin EGF domain
      pfam00055
      Location:49285
      Laminin_N; Laminin N-terminal (Domain VI)
      pfam06009
      Location:20372173
      Laminin_II; Laminin Domain II

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      128883138..129516566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      130076331..130710229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)