LAMC2 laminin, gamma 2 [Homo sapiens] - Gene

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Summary

Official Symbol: LAMC2provided by HGNC
Official Full Name: laminin, gamma 2provided by HGNC
Primary source: HGNC:6493
See related: Ensembl:ENSG00000058085; HPRD:01031; MIM:150292; Vega:OTTHUMG00000035520
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; MGC138491; MGC141938
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]

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Genomic context

Location :: 1q25-q31

Sequence :: Chromosome: 1; NC_000001.10 (183155174..183214262)

See LAMC2 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Cytoplasmic laminin-5 expression should not be used as a criterion of malignancy and is not useful in distinguishing pseudocarcinomatous hyperplasia from microinvasive and well-differentiated SCC.
Title: Expression of laminin-5 γ2 chain in cutaneous pseudocarcinomatous hyperplasia.
In colorectal cancer progression, vascular endothelial growth factor overexpression seems to play a role in the tumor center, whereas Laminin5gamma2-positivity combined with Raf-1 kinase inhibitor protein loss is associated with tumor invasion at the f...
Title: Systematic analysis of proteins from different signaling pathways in the tumor center and the invasive front of colorectal cancer.
Immunohistochemical analysis of laminin 5-gamma2 chain expression for differentiation of basal cell carcinoma from trichoblastoma.
Title: Immunohistochemical analysis of laminin 5-γ2 chain expression for differentiation of basal cell carcinoma from trichoblastoma.
Cell surface COL17 can interact with laminin 332 and, together, participate in the adherence of a cell to the extracellular matrix.
Title: Type XVII collagen (BP180) can function as a cell-matrix adhesion molecule via binding to laminin 332.
These results suggest that epigenetic activation of LAMB3 and LAMC2 may play an important role in gastric carcinogenesis.
Title: Aberrant up-regulation of LAMB3 and LAMC2 by promoter demethylation in gastric cancer.
The infiltrative invasion of GI-type ovarian mucinous neoplasms may be promoted by cytoplasmic and/or stromal expression of laminin gamma 2 chain.
Title: Cytoplasmic and stromal expression of laminin γ 2 chain correlates with infiltrative invasion in ovarian mucinous neoplasms of gastro-intestinal type.
Increased expression of laminin5-[gamma]2 is associated with bronchioloalveolar carcinoma.
Title: Histopathologic features of the tumor budding in adenocarcinoma of the lung: tumor budding as an index to predict the potential aggressiveness.
ZEB1 coordinately regulates laminin-332 and {beta}4 integrin expression altering the invasive phenotype of prostate cancer cells
Title: ZEB1 coordinately regulates laminin-332 and {beta}4 integrin expression altering the invasive phenotype of prostate cancer cells.
Bisecting GlcNAc residues on laminin-332 down-regulate galectin-3-dependent keratinocyte motility.
Title: Bisecting GlcNAc residues on laminin-332 down-regulate galectin-3-dependent keratinocyte motility.
These findings imply that the gamma2 monomer is induced in human cancers by inflammatory and stromal cytokines and promotes their invasive growth in vivo.
Title: Expression of laminin gamma2 chain monomer enhances invasive growth of human carcinoma cells in vivo.

Submit: New GeneRIF Correction See all (50)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.

Epidermolysis bullosa, junctional, Herlitz type

MIM: 226700

Epidermolysis bullosa, junctional, non-Herlitz type

MIM: 226650

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Tat	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 Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
Q13753	P13497	BMP1	HPRD	PubMed
Q13753	Q02388	COL7A1	HPRD	PubMed
Q13753	P98095	FBLN2	HPRD	PubMed
Q13753	Q13751	LAMB3	HPRD	PubMed
Q13753	P14543	NID1	HPRD	PubMed
BioGRID:110112	BioGRID:107691	COL7A1	BioGRID	PubMed	Reconstituted Complex
BioGRID:110112	BioGRID:123928	SLA2	BioGRID	PubMed	Far Western
BioGRID:110112	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
heparin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell adhesion	IEA Inferred from Electronic Annotation more info
cell junction assembly	TAS Traceable Author Statement more info
epidermis development	TAS Traceable Author Statement more info	PubMed
hemidesmosome assembly	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
basement membrane	IEA Inferred from Electronic Annotation more info
cell cortex	IEA Inferred from Electronic Annotation more info
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 fraction	IEA Inferred from Electronic Annotation more info
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
soluble fraction	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: laminin subunit gamma-2

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

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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

NG_007079.2 RefSeqGene

Range

4776..63864

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005562.2 → NP_005553.2 laminin subunit gamma-2 isoform a precursor

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, OTTHUMP00000033550, ENST00000264144, OTTHUMT00000086258

Conserved Domains (6) summary

cd00055
Location:83 – 127
Blast Score: 135

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 ...

COG0840
Location:818 – 1166
Blast Score: 118

Tar; Methyl-accepting chemotaxis protein [Cell motility and secretion / Signal transduction mechanisms]

COG1196
Location:614 – 966
Blast Score: 137

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

smart00180
Location:84 – 128
Blast Score: 148

EGF_Lam; Laminin-type epidermal growth factor-like domai

cl02548
Location:245 – 370
Blast Score: 380

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:139 – 184
Blast Score: 142

Laminin_EGF; Laminin EGF-like (Domains III and V)
NM_018891.2 → NP_061486.2 laminin subunit gamma-2 isoform b precursor

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, OTTHUMP00000230852, ENST00000493293, OTTHUMT00000086260

Conserved Domains (5) summary

cd00055
Location:83 – 127
Blast Score: 133

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 ...

COG1196
Location:648 – 1015
Blast Score: 143

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

smart00180
Location:84 – 128
Blast Score: 146

EGF_Lam; Laminin-type epidermal growth factor-like domai

cl02548
Location:245 – 370
Blast Score: 383

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:139 – 184
Blast Score: 139

Laminin_EGF; Laminin EGF-like (Domains III and V)

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

183155174..183214262

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

154390994..154450096

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL354953.16	CAH70980.1
genomic	CH471067.1	EAW91146.1
		EAW91147.1
genomic	U31178.1	AAC50457.1
genomic	U31179.1	AAC50457.1
genomic	U31180.1	AAC50457.1
genomic	U31181.1	AAC50457.1
genomic	U31182.1	AAC50457.1
genomic	U31183.1	AAC50457.1
genomic	U31184.1	AAC50457.1
genomic	U31185.1	AAC50457.1
genomic	U31186.1	AAC50457.1
genomic	U31187.1	AAC50457.1
genomic	U31188.1	AAC50457.1
genomic	U31189.1	AAC50457.1
genomic	U31190.1	AAC50457.1
genomic	U31191.1	AAC50457.1
genomic	U31192.1	AAC50457.1
genomic	U31193.1	AAC50457.1
genomic	U31194.1	AAC50457.1
genomic	U31195.1	AAC50457.1
genomic	U31196.1	AAC50457.1
genomic	U31197.1	AAC50457.1
genomic	U31198.1	AAC50457.1
genomic	U31199.1	AAC50457.1
genomic	U31200.1	AAC50456.1
genomic	U31201.1	AAC50457.1
mRNA	AK296944.1	BAG59493.1
mRNA	AK307945.1	None
mRNA	BC112286.1	AAI12287.1
mRNA	BC113378.1	AAI13379.1
mRNA	BC143653.1	None
mRNA	X73902.1	CAA52108.1
mRNA	Z15008.1	CAA78728.1
mRNA	Z15009.1	CAA78729.1