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

Gene ID: 3908, updated on 10-Dec-2024

Summary

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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
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Genomic context

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See LAMA2 in Genome Data Viewer
Location:
6q22.33
Exon count:
65
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (128883138..129516566)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (130076331..130710229)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy. Ding J, et al. Brain Dev, 2016 Feb. PMID 26304763
  2. Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene. Coral-Vazquez RM, et al. J Hum Genet, 2003. PMID 12601554
  3. Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy. Hashemi-Gorji F, et al. Iran Biomed J, 2018 Nov. PMID 29707938, Free PMC Article
  4. Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2. Yiş U, et al. Turk J Pediatr, 2017. PMID 29376585
  5. Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. Vainzof M, et al. Neuromuscul Disord, 2005 Oct. PMID 16084089

See all (129) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.
    Title: Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.
  2. Genetic profile of Brazilian patients with LAMA2-related dystrophies.
    Title: Genetic profile of Brazilian patients with LAMA2-related dystrophies.
  3. Epigenetic regulation of LINC01270 in breast cancer progression by mediating LAMA2 promoter methylation and MAPK signaling pathway.
    Title: Epigenetic regulation of LINC01270 in breast cancer progression by mediating LAMA2 promoter methylation and MAPK signaling pathway.
  4. An atypical expression of core alpha-Dystroglycan and Laminin-alpha2 in skin fibroblasts of patients with congenital muscular dystrophies.
    Title: An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies.
  5. Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.
    Title: Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.
  6. LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
    Title: LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
  7. Alu Deletions in LAMA2 and CDH4 Genes Are Key Components of Polygenic Predictors of Longevity.
    Title: Alu Deletions in LAMA2 and CDH4 Genes Are Key Components of Polygenic Predictors of Longevity.
  8. LAMA2 and LOXL4 are candidate FSGS genes.
    Title: LAMA2 and LOXL4 are candidate FSGS genes.
  9. Immune-related genes LAMA2 and IL1R1 correlate with tumor sites and predict poor survival in pancreatic adenocarcinoma.
    Title: Immune-related genes LAMA2 and IL1R1 correlate with tumor sites and predict poor survival in pancreatic adenocarcinoma.
  10. Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
    Title: Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
Submit: New GeneRIF Correction See all GeneRIFs (65)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 
Process Evidence Code Pubs
involved_in Schwann cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in axon guidance IEA
Inferred from Electronic Annotation
more info
  
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within maintenance of blood-brain barrier NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in muscle organ development TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of cell adhesion NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of integrin-mediated signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of muscle cell differentiation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of synaptic transmission, cholinergic IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of basement membrane organization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of cell migration IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of embryonic development IEA
Inferred from Electronic Annotation
more info
  
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

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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)

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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_000426.4 → NP_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_001079823.2 → NP_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:967 → 1011
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    smart00281
    Location:1229 → 1364
    LamB; Laminin B domain
    COG1340
    Location:1740 → 2005
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00055
    Location:917 → 965
    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:2937 → 3089
    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:1593 → 1852
    Laminin_I; Laminin Domain I
    pfam00054
    Location:2789 → 2917
    Laminin_G_1; Laminin G domain
    pfam00053
    Location:1060 → 1108
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:49 → 285
    Laminin_N; Laminin N-terminal (Domain VI)
    pfam06009
    Location:2037 → 2173
    Laminin_II; Laminin Domain II

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P24043.4 GenPept UniProtKB/Swiss-Prot:P24043

Gene LinkOut

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

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