Version 5.4
Homo sapiens Gene: LAMC2
Summary
InnateDB Gene IDBG-105293.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LAMC2
Gene Name laminin, gamma 2
Synonyms B2T; BM600; CSF; EBR2; EBR2A; LAMB2T; LAMNB2
Species Homo sapiens
Ensembl Gene ENSG00000058085
Encoded Proteins
IDBP-105295
laminin, gamma 2
IDBP-591658
laminin, gamma 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:183186238-183244900
Strand Forward strand
Band q25.3
Transcripts
ENST00000264144 ENSP00000264144
ENST00000493293 ENSP00000432063
ENST00000461729
ENST00000476255
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 8 [view]
Protein-Protein 7 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008201 heparin binding
Biological Process
GO:0007155 cell adhesion
GO:0008544 epidermis development
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0031581 hemidesmosome assembly
GO:0034329 cell junction assembly
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005604 basement membrane
GO:0005607 laminin-2 complex
GO:0005610 laminin-5 complex
GO:0005615 extracellular space
GO:0005938 cell cortex
GO:0016020 membrane
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000026479
View Gene Order
ENSBTAG00000000793
Not yet available
Pathways
NETPATH
NetPath_1
Alpha6Beta4Integrin pathway
REACTOME
REACT_150268
Anchoring fibril formation pathway
REACT_150180
Assembly of collagen fibrils and other multimeric structures pathway
REACT_20537
Type I hemidesmosome assembly pathway
REACT_111155
Cell-Cell communication pathway
REACT_118779
Extracellular matrix organization pathway
REACT_20676
Cell junction organization pathway
REACT_118572
Degradation of the extracellular matrix pathway
REACT_163874
Non-integrin membrane-ECM interactions pathway
REACT_169262
Laminin interactions pathway
REACT_120729
Collagen formation pathway
KEGG
hsa04512
ECM-receptor interaction pathway
hsa05222
Small cell lung cancer pathway
hsa04510
Focal adhesion pathway
hsa05200
Pathways in cancer pathway
hsa05146
Amoebiasis pathway
hsa05145
Toxoplasmosis pathway
INOH
INOH website
Integrin signaling pathway pathway
PID NCI
integrin1_pathway
Beta1 integrin cell surface interactions
integrin4_pathway
Alpha6 beta4 integrin-ligand interactions
Cross-References
SwissProt Q13753
TrEMBL
UniProt Splice Variant
Entrez Gene 3918
UniGene Hs.591484 Hs.676433 Hs.702528
RefSeq NM_018891 XM_006711316 NM_005562 XM_005245150
HUGO HGNC:6493
OMIM 150292
CCDS CCDS44285 CCDS1352
HPRD 01031
IMGT
EMBL AL354953 BC113378 CH471067 U31178 U31179 U31180 U31181 U31182 U31183 U31184 U31186 U31187 U31188 U31189 U31190 U31191 U31192 U31193 U31194 U31195 U31196 U31197 U31198 U31199 U31200 U31201 X73902 Z15008 Z15009
GenPept AAC50456 AAC50457 AAI13379 CAA52108 CAA78728 CAA78729 CAH70980 EAW91146
RNA Seq Atlas 3918

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca