Version 5.4
Homo sapiens Gene: DSC2
Summary
InnateDB Gene IDBG-1950.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DSC2
Gene Name desmocollin 2
Synonyms ARVD11; CDHF2; DG2; DGII/III; DSC3
Species Homo sapiens
Ensembl Gene ENSG00000134755
Encoded Proteins
IDBP-1952
desmocollin 2
IDBP-1954
desmocollin 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:31058840-31102415
Strand Reverse strand
Band q12.1
Transcripts
ENST00000251081 ENSP00000251081
ENST00000280904 ENSP00000280904
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [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
GO:0005515 protein binding
Biological Process
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion
GO:0009267 cellular response to starvation
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086042 cardiac muscle cell-cardiac muscle cell adhesion
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:0005913 cell-cell adherens junction
GO:0014704 intercalated disc
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030057 desmosome
GO:0031410 cytoplasmic vesicle
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000024331
View Gene Order
ENSBTAG00000040584
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
INOH
PID NCI
Cross-References
SwissProt Q02487
TrEMBL A9X9L1
UniProt Splice Variant
Entrez Gene 1824
UniGene Hs.607260 Hs.713050 Hs.95612
RefSeq NM_004949 NM_024422 XM_005258206
HUGO HGNC:3036
OMIM 125645
CCDS CCDS11893 CCDS11892
HPRD 00512
IMGT
EMBL BC063291 EF017813 X56807
GenPept AAH63291 ABM88172 CAA40141 CAA40142
RNA Seq Atlas 1824

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