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

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Title: Genetic profile of Brazilian patients with LAMA2-related dystrophies.
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.
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.
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.
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.
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.
LAMA2 and LOXL4 are candidate FSGS genes.
Title: LAMA2 and LOXL4 are candidate FSGS genes.
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.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Merosin deficient congenital muscular dystrophy MedGen: C1263858 OMIM: 607855 GeneReviews: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders, LAMA2 Muscular Dystrophy	Compare labs
Muscular dystrophy, limb-girdle, autosomal recessive 23 MedGen: C4748327 OMIM: 618138 GeneReviews: LAMA2 Muscular Dystrophy	Compare labs

EBI GWAS Catalog

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S2437 (e-PCR), detects polymorphism
- UniSTS:5896

SHGC-144988 (e-PCR)
- UniSTS:174357

RH119549 (e-PCR)
- UniSTS:132632

SHGC-148006 (e-PCR)
- UniSTS:176155

SHGC-104670 (e-PCR)
- UniSTS:168990

RH122053 (e-PCR)
- UniSTS:134689

SHGC-153360 (e-PCR)
- UniSTS:177700

SHGC-143161 (e-PCR)
- UniSTS:171814

SHGC-83145 (e-PCR)
- UniSTS:96041

WI-12009 (e-PCR)
- UniSTS:43067

SGC44486 (e-PCR)
- UniSTS:68415

WI-17944 (e-PCR)
- UniSTS:20033

SHGC-68772 (e-PCR)
- UniSTS:100681

SHGC-111271 (e-PCR)
- UniSTS:168266

G30956 (e-PCR)
- UniSTS:70993

D6S2085 (e-PCR)
- UniSTS:3923

SHGC-155545 (e-PCR)
- UniSTS:184413

SHGC-79252 (e-PCR)
- UniSTS:102782

SHGC-111945 (e-PCR)
- UniSTS:168831

SHGC-149941 (e-PCR)
- UniSTS:177319

RH120703 (e-PCR)
- UniSTS:132784

D6S1457 (e-PCR)
- UniSTS:6331

D6S2413 (e-PCR)
- UniSTS:62401

SHGC-146573 (e-PCR)
- UniSTS:175300

RH46671 (e-PCR)
- UniSTS:56010

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 more info	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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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

NG_008678.1 RefSeqGene

Range

5001..638426

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_409

mRNA and Protein(s)

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
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