Endometriosis Knowledgebase

Search Result

Gene id

3918

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

LAMC2 Gene UCSC Ensembl

Aliases

B2T, BM600, CSF, EBR2, EBR2A, LAMB2T, LAMNB2

Gene name

laminin subunit gamma 2

Alternate names

laminin subunit gamma-2, 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 su,

Gene location

1q25.3 (183186038: 183245126) Exons: 23 NC_000001.11

Gene summary(Entrez)

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]

OMIM

150292

Protein Summary

Protein general information

Q13753

Name: Laminin subunit gamma 2 (Cell scattering factor 140 kDa subunit) (CSF 140 kDa subunit) (Epiligrin subunit gamma) (Kalinin subunit gamma) (Kalinin/nicein/epiligrin 100 kDa subunit) (Ladsin 140 kDa subunit) (Laminin B2t chain) (Laminin 5 subunit gamma) (Lar

Length: 1193 Mass: 130,976

Tissue specificity: The large variant is expressed only in specific epithelial cells of embryonic and neonatal tissues. In 17-week old embryo the small variant is found in cerebral cortex, lung, and distal tubes of kidney, but not in epithelia except for

Sequence

MPALWLGCCLCFSLLLPAARATSRREVCDCNGKSRQCIFDRELHRQTGNGFRCLNCNDNTDGIHCEKCKNGFYRH
RERDRCLPCNCNSKGSLSARCDNSGRCSCKPGVTGARCDRCLPGFHMLTDAGCTQDQRLLDSKCDCDPAGIAGPC
DAGRCVCKPAVTGERCDRCRSGYYNLDGGNPEGCTQCFCYGHSASCRSSAEYSVHKITSTFHQDVDGWKAVQRNG
SPAKLQWSQRHQDVFSSAQRLDPVYFVAPAKFLGNQQVSYGQSLSFDYRVDRGGRHPSAHDVILEGAGLRITAPL
MPLGKTLPCGLTKTYTFRLNEHPSNNWSPQLSYFEYRRLLRNLTALRIRATYGEYSTGYIDNVTLISARPVSGAP
APWVEQCICPVGYKGQFCQDCASGYKRDSARLGPFGTCIPCNCQGGGACDPDTGDCYSGDENPDIECADCPIGFY
NDPHDPRSCKPCPCHNGFSCSVMPETEEVVCNNCPPGVTGARCELCADGYFGDPFGEHGPVRPCQPCQCNNNVDP
SASGNCDRLTGRCLKCIHNTAGIYCDQCKAGYFGDPLAPNPADKCRACNCNPMGSEPVGCRSDGTCVCKPGFGGP
NCEHGAFSCPACYNQVKIQMDQFMQQLQRMEALISKAQGGDGVVPDTELEGRMQQAEQALQDILRDAQISEGASR
SLGLQLAKVRSQENSYQSRLDDLKMTVERVRALGSQYQNRVRDTHRLITQMQLSLAESEASLGNTNIPASDHYVG
PNGFKSLAQEATRLAESHVESASNMEQLTRETEDYSKQALSLVRKALHEGVGSGSGSPDGAVVQGLVEKLEKTKS
LAQQLTREATQAEIEADRSYQHSLRLLDSVSRLQGVSDQSFQVEEAKRIKQKADSLSSLVTRHMDEFKRTQKNLG
NWKEEAQQLLQNGKSGREKSDQLLSRANLAKSRAQEALSMGNATFYEVESILKNLREFDLQVDNRKAEAEEAMKR
LSYISQKVSDASDKTQQAERALGSAAADAQRAKNGAGEALEISSEIEQEIGSLNLEANVTADGALAMEKGLASLK
SEMREVEGELERKELEFDTNMDAVQMVITEAQKVDTRAKNAGVTIQDTLNTLDGLLHLMDQPLSVDEEGLVLLEQ
KLSRAKTQINSQLRPMMSELEERARQQRGHLHLLETSIDGILADVKNLENIRDNLPPGCYNTQALEQQ

Structural information

Protein Domains	Laminin (28-83) Laminin (84-130) Laminin (139-186) Laminin (187-196)
Interpro:	IPR000742 IPR002049 IPR031082 IPR000034
Prosite:	PS00022 PS01186 PS01248 PS50027 PS51115
Pfam:	PF00052 PF00053
MINT:	4053464
STRING:	ENSP00000264144;

Other Databases

GeneCards: LAMC2; Malacards: LAMC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005607	laminin-2 complex	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005938	cell cortex	IEA	cellular_component
GO:0007155	cell adhesion	IEA	biological_process
GO:0008201	heparin binding	IEA	molecular_function
GO:0008544	epidermis development	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0031581	hemidesmosome assembly	TAS	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005607	laminin-2 complex	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005938	cell cortex	IEA	cellular_component
GO:0007155	cell adhesion	IEA	biological_process
GO:0008201	heparin binding	IEA	molecular_function
GO:0008544	epidermis development	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0031581	hemidesmosome assembly	TAS	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0008544	epidermis development	TAS	biological_process
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0031581	hemidesmosome assembly	TAS	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa05145  Toxoplasmosis
hsa05146  Amoebiasis
hsa05222  Small cell lung cancer
hsa04512  ECM-receptor interaction

Diseases

Associated diseases	References
Coronary disease	PMID: 21347282
Cutis laxa	KEGG: H00557
Endometrial cancer	PMID: 27873306
Endometriosis	PMID: 24070183
Epidermolysis bullosa	OMIM: 150292
Maculopathy	PMID: 15370542
Endometriosis	INFBASE24070183
Systemic lupus erythematosus	PMID: 21408207

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24070183	Endometrio sis			30 endometriosi s patients with symptoms of dy smenorrhoea, ch ronic pelvic pa in, dyspareunia , infertility, urinary and rec tal symptoms	Female infertility		Show abstract