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

Gene ID: 3908, updated on 31-Dec-2019

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
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

Genomic context

See LAMA2 in Genome Data Viewer
Location:
6q22.33
Exon count:
69
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (128883138..129516566)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (129204286..129837711)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377998 Neighboring gene ribosomal protein L21 pseudogene 64 Neighboring gene mesoderm specific transcript pseudogene 1 Neighboring gene bone morphogenetic protein receptor type 1A pseudogene 1 Neighboring gene RNA, U6 small nuclear 861, pseudogene Neighboring gene uncharacterized LOC102723409 Neighboring gene Rho GTPase activating protein 18 Neighboring gene Sharpr-MPRA regulatory region 14599 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

NHGRI GWAS Catalog

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
signaling receptor binding IEA
Inferred from Electronic Annotation
more info
 
structural molecule activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
Schwann cell differentiation IEA
Inferred from Electronic Annotation
more info
 
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon guidance IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
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
 
tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
basement membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basement membrane IDA
Inferred from Direct Assay
more info
PubMed 
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 
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)

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
    Related
    ENSP00000400365.2, ENST00000421865.2
  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
    Related
    ENSP00000481744.1, ENST00000617695.4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005266981.3XP_005267038.1  laminin subunit alpha-2 isoform X1

    Conserved Domains (13) summary
    smart00180
    Location:10551099
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    smart00281
    Location:13171452
    LamB; Laminin B domain
    smart00283
    Location:19142166
    MA; Methyl-accepting chemotaxis-like domains (chemotaxis sensory transducer)
    cd00055
    Location:917962
    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:30293181
    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 ...
    pfam00053
    Location:15081554
    Laminin_EGF; Laminin EGF domain
    pfam00054
    Location:28813009
    Laminin_G_1; Laminin G domain
    pfam00055
    Location:49285
    Laminin_N; Laminin N-terminal (Domain VI)
    pfam06008
    Location:16761940
    Laminin_I; Laminin Domain I
    pfam06009
    Location:21252261
    Laminin_II; Laminin Domain II
    pfam16043
    Location:17511937
    DUF4795; Domain of unknown function (DUF4795)
    cl01972
    Location:18961996
    DUF948; Bacterial protein of unknown function (DUF948)
    cl12013
    Location:20142229
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. XM_005266982.3XP_005267039.1  laminin subunit alpha-2 isoform X3

    Conserved Domains (13) summary
    smart00180
    Location:10551099
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    smart00281
    Location:13171452
    LamB; Laminin B domain
    smart00283
    Location:19142166
    MA; Methyl-accepting chemotaxis-like domains (chemotaxis sensory transducer)
    cd00055
    Location:917962
    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:30253177
    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 ...
    pfam00053
    Location:15081554
    Laminin_EGF; Laminin EGF domain
    pfam00054
    Location:28773005
    Laminin_G_1; Laminin G domain
    pfam00055
    Location:49285
    Laminin_N; Laminin N-terminal (Domain VI)
    pfam06008
    Location:16761940
    Laminin_I; Laminin Domain I
    pfam06009
    Location:21252261
    Laminin_II; Laminin Domain II
    pfam16043
    Location:17511937
    DUF4795; Domain of unknown function (DUF4795)
    cl01972
    Location:18961996
    DUF948; Bacterial protein of unknown function (DUF948)
    cl12013
    Location:20142229
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. XM_011535820.2XP_011534122.1  laminin subunit alpha-2 isoform X2

    Conserved Domains (13) summary
    smart00180
    Location:10551099
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    smart00281
    Location:13171452
    LamB; Laminin B domain
    smart00283
    Location:19142166
    MA; Methyl-accepting chemotaxis-like domains (chemotaxis sensory transducer)
    cd00055
    Location:917962
    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:30273179
    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 ...
    pfam00053
    Location:15081554
    Laminin_EGF; Laminin EGF domain
    pfam00054
    Location:28793007
    Laminin_G_1; Laminin G domain
    pfam00055
    Location:49285
    Laminin_N; Laminin N-terminal (Domain VI)
    pfam06008
    Location:16761940
    Laminin_I; Laminin Domain I
    pfam06009
    Location:21252259
    Laminin_II; Laminin Domain II
    pfam16043
    Location:17511937
    DUF4795; Domain of unknown function (DUF4795)
    cl01972
    Location:18961996
    DUF948; Bacterial protein of unknown function (DUF948)
    cl12013
    Location:20142227
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  4. XM_017010853.1XP_016866342.1  laminin subunit alpha-2 isoform X6

  5. XM_017010851.2XP_016866340.1  laminin subunit alpha-2 isoform X4

  6. XM_017010852.1XP_016866341.1  laminin subunit alpha-2 isoform X5

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