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LAMC2 laminin subunit gamma 2 [ Homo sapiens (human) ]

Gene ID: 3918, updated on 20-Dec-2019

Summary

Official Symbol
LAMC2provided by HGNC
Official Full Name
laminin subunit gamma 2provided by HGNC
Primary source
HGNC:HGNC:6493
See related
Ensembl:ENSG00000058085 MIM:150292
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
B2T; CSF; EBR2; BM600; EBR2A; LAMB2T; LAMNB2
Summary
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
Expression
Broad expression in lung (RPKM 14.0), thyroid (RPKM 10.4) and 16 other tissues See more
Orthologs

Genomic context

See LAMC2 in Genome Data Viewer
Location:
1q25.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (183186264..183245127)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (183147952..183214262)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 41, pseudogene Neighboring gene laminin subunit gamma 1 Neighboring gene LAMC1 antisense RNA 1 Neighboring gene nicotinamide nucleotide adenylyltransferase 2 Neighboring gene RPS3A pseudogene 8 Neighboring gene uncharacterized LOC105371646 Neighboring gene SMG7 antisense RNA 1

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
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
NHGRI GWA Catalog
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
NHGRI GWA Catalog
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
NHGRI GWA Catalog
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
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

Clone Names

  • MGC138491, MGC141938

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
dendrite development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
hemidesmosome assembly TAS
Traceable Author Statement
more info
 
motor neuron axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
cell cortex IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
laminin-2 complex IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
laminin subunit gamma-2
Names
BM600-100kDa
CSF 140 kDa subunit
cell-scattering factor 140 kDa subunit
epiligrin subunit gamma
kalinin subunit gamma
ladsin 140 kDa subunit
laminin B2t chain
laminin, gamma 2
large adhesive scatter factor 140 kDa subunit
nicein subunit gamma

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_007079.2 RefSeqGene

    Range
    5001..63864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005562.3NP_005553.2  laminin subunit gamma-2 isoform a precursor

    See identical proteins and their annotated locations for NP_005553.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the full length transcript variant. It encodes isoform (a) which is expressed in the epithelia of embryonic tissues.
    Source sequence(s)
    AL354953, X73902
    Consensus CDS
    CCDS1352.1
    UniProtKB/Swiss-Prot
    Q13753
    Related
    ENSP00000264144.4, ENST00000264144.5
    Conserved Domains (5) summary
    smart00281
    Location:245370
    LamB; Laminin B domain
    cd00055
    Location:83127
    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 ...
    pfam00053
    Location:139184
    Laminin_EGF; Laminin EGF domain
    pfam04012
    Location:8511058
    PspA_IM30; PspA/IM30 family
    cl02488
    Location:8911111
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  2. NM_018891.3NP_061486.2  laminin subunit gamma-2 isoform b precursor

    See identical proteins and their annotated locations for NP_061486.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents a shorter transcript variant, compared to variant 1, and encodes a shorter isoform (b). Transcript variant 2, unlike variant 1, has limited expression only in the embryonic cerebral cortex, lung and distal tubules of the kidney.
    Source sequence(s)
    AL354953, BC113378
    Consensus CDS
    CCDS44285.1
    UniProtKB/Swiss-Prot
    Q13753
    Related
    ENSP00000432063.1, ENST00000493293.5
    Conserved Domains (5) summary
    smart00281
    Location:245370
    LamB; Laminin B domain
    cd00055
    Location:83127
    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 ...
    pfam00053
    Location:139184
    Laminin_EGF; Laminin EGF domain
    pfam04012
    Location:8511058
    PspA_IM30; PspA/IM30 family
    cl02488
    Location:8911109
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    183186264..183245127
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001273.2XP_016856762.1  laminin subunit gamma-2 isoform X1

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