InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: DSG2

Summary

InnateDB Gene

IDBG-2080.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DSG2

Gene Name

desmoglein 2

Synonyms

ARVC10; ARVD10; CDHF5; CMD1BB; HDGC

Species

Homo sapiens

Ensembl Gene

ENSG00000046604

Encoded Proteins

IDBP-2082

desmoglein 2

IDBP-725661

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. This gene product is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This second family member is expressed in colon, colon carcinoma, and other simple and stratified epithelial-derived cell lines. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 18:31498043-31549008

Strand

Forward strand

Band

q12.1

Transcripts

ENST00000261590	ENSP00000261590
ENST00000585206	ENSP00000462503

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.

Experimentally validated
Total	23 [view]
Protein-Protein	23 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding

Biological Process

GO:0006915	apoptotic process
GO:0006921	cellular component disassembly involved in execution phase of apoptosis
GO:0007155	cell adhesion
GO:0007156	homophilic cell adhesion
GO:0032570	response to progesterone
GO:0060135	maternal process involved in female pregnancy
GO:0086005	ventricular cardiac muscle cell action potential
GO:0086069	bundle of His cell to Purkinje myocyte communication
GO:0086091	regulation of heart rate by cardiac conduction

Cellular Component

GO:0005886	plasma membrane
GO:0005911	cell-cell junction
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0016328	lateral plasma membrane
GO:0030057	desmosome
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000044393

View Gene Order

ENSBTAG00000021923

Not yet available

Pathways

NETPATH

NetPath_4

EGFR1 pathway

REACTOME

REACT_13579

Apoptotic cleavage of cell adhesion proteins pathway

REACT_107

Apoptotic cleavage of cellular proteins pathway

REACT_995

Apoptotic execution phase pathway

REACT_578

Apoptosis pathway

KEGG

hsa05412

Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway

INOH

PID NCI

Cross-References

SwissProt

Q14126

TrEMBL

J3KSI6

UniProt Splice Variant

Entrez Gene

1829

UniGene

Hs.412597 Hs.712925

RefSeq

NM_001943

HUGO

HGNC:3049

OMIM

125671

CCDS

CCDS42423

HPRD

IMGT

EMBL

AC021549 AC079096 BC099655 BC099656 BC099657 Z26317

GenPept

AAH99655 AAH99656 AAH99657 CAA81226

RNA Seq Atlas

1829