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

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; AllianceGenome:HGNC:6493
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; JEB3A; JEB3B; 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: mouse all
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Genomic context

Location:: 1q25.3

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (183186264..183258968)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (182538023..182618306)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (183155399..183214262)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Oncogenic Roles of Laminin Subunit Gamma-2 in Intrahepatic Cholangiocarcinoma via Promoting EGFR Translation.
Title: Oncogenic Roles of Laminin Subunit Gamma-2 in Intrahepatic Cholangiocarcinoma via Promoting EGFR Translation.
Extracellular matrix marker LAMC2 targets ZEB1 to promote TNBC malignancy via up-regulating CD44/STAT3 signaling pathway.
Title: Extracellular matrix marker LAMC2 targets ZEB1 to promote TNBC malignancy via up-regulating CD44/STAT3 signaling pathway.
LAMC2 regulates the proliferation, invasion, and metastasis of gastric cancer via PI3K/Akt signaling pathway.
Title: LAMC2 regulates the proliferation, invasion, and metastasis of gastric cancer via PI3K/Akt signaling pathway.
LncRNAs-Regulated High Expression of LAMC2 Reveals a Prognostic and Immunological Value in Pancreatic Adenocarcinoma.
Title: LncRNAs-Regulated High Expression of LAMC2 Reveals a Prognostic and Immunological Value in Pancreatic Adenocarcinoma.
LAMC2 promotes EGFR cell membrane localization and acts as a novel biomarker for tyrosine kinase inhibitors (TKIs) sensitivity in lung cancer.
Title: LAMC2 promotes EGFR cell membrane localization and acts as a novel biomarker for tyrosine kinase inhibitors (TKIs) sensitivity in lung cancer.
LAMC2 Regulates Key Transcriptional and Targetable Effectors to Support Pancreatic Cancer Growth.
Title: LAMC2 Regulates Key Transcriptional and Targetable Effectors to Support Pancreatic Cancer Growth.
LncRNA T376626 is a promising serum biomarker and promotes proliferation, migration, and invasion via binding to LAMC2 in triple-negative breast cancer.
Title: LncRNA T376626 is a promising serum biomarker and promotes proliferation, migration, and invasion via binding to LAMC2 in triple-negative breast cancer.
LAMC2 as a prognostic biomarker in human cancer: a systematic review and meta-analysis.
Title: LAMC2 as a prognostic biomarker in human cancer: a systematic review and meta-analysis.
LAMC2 marks a tumor-initiating cell population with an aggressive signature in pancreatic cancer.
Title: LAMC2 marks a tumor-initiating cell population with an aggressive signature in pancreatic cancer.
Overexpression of laminin-5 gamma-2 promotes tumorigenesis of pancreatic ductal adenocarcinoma through EGFR/ERK1/2/AKT/mTOR cascade.
Title: Overexpression of laminin-5 gamma-2 promotes tumorigenesis of pancreatic ductal adenocarcinoma through EGFR/ERK1/2/AKT/mTOR cascade.

Submit: New GeneRIF Correction See all GeneRIFs (122)

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
Epidermolysis bullosa, junctional 3A, intermediate MedGen: C5676938 OMIM: 619785 GeneReviews: Not available	Compare labs
Epidermolysis bullosa, junctional 3B, severe MedGen: C5676939 OMIM: 619786 GeneReviews: Not available	Compare labs
Junctional epidermolysis bullosa gravis of Herlitz MedGen: C0079683 OMIM: 226700 GeneReviews: Junctional Epidermolysis Bullosa	Compare labs

EBI GWAS Catalog

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

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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

RH18131 (e-PCR)
- UniSTS:55306

SHGC-35434 (e-PCR)
- UniSTS:53520

RH68245 (e-PCR)
- UniSTS:3091

D1S2385 (e-PCR)
- UniSTS:75909

LAMC2 (e-PCR)
- UniSTS:264093

GDB:335853 (e-PCR)
- UniSTS:156610

GDB:335857 (e-PCR)
- UniSTS:156611

GDB:335860 (e-PCR)
- UniSTS:156612

SHGC-76024 (e-PCR)
- UniSTS:54215

LAMC2_4004 (e-PCR)
- UniSTS:462311

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables heparin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
part_of laminin-2 complex	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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_007079.3 RefSeqGene

Range

5002..63865

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005562.3 → NP_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

Q02536, Q02537, Q13752, Q13753, Q14941, Q14DF7, Q2M1N2, Q5VYE8

UniProtKB/TrEMBL

B4DLD1

Related

ENSP00000264144.4, ENST00000264144.5

Conserved Domains (5) summary

smart00281
Location:245 → 370

LamB; Laminin B domain

cd00055
Location:83 → 127

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:139 → 184

Laminin_EGF; Laminin EGF domain

pfam04012
Location:851 → 1058

PspA_IM30; PspA/IM30 family

cl02488
Location:891 → 1111

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; ...
NM_018891.3 → NP_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/TrEMBL

B4DLD1

Related

ENSP00000432063.1, ENST00000493293.5

Conserved Domains (5) summary

smart00281
Location:245 → 370

LamB; Laminin B domain

cd00055
Location:83 → 127

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:139 → 184

Laminin_EGF; Laminin EGF domain

pfam04012
Location:851 → 1058

PspA_IM30; PspA/IM30 family

cl02488
Location:891 → 1109

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: 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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

183186264..183258968

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420358.1 → XP_047276314.1 laminin subunit gamma-2 isoform X1

UniProtKB/TrEMBL

B4DLD1
XM_047420361.1 → XP_047276317.1 laminin subunit gamma-2 isoform X2

UniProtKB/TrEMBL

B4DLD1
XM_017001273.2 → XP_016856762.1 laminin subunit gamma-2 isoform X3