The DSC2 gene homepage

General information
Gene symbol DSC2
Gene name desmocollin 2
Chromosome 18
Chromosomal band q12.1
Imprinted -
Genomic reference NG_008208.1
Transcript reference NM_024422.3
Associated with diseases WD
Citation reference(s) Pan M et al, 2011
Zhang T et al, 2010
Refseq URL Coding DNA reference sequence
Curators (0) -
Total number of public variants reported 77
Unique public DNA variants reported 66
Individuals with public variants 0
Hidden variants -
Notes 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]
Also known as: DG2; DSC3; CDHF2; ARVD11; DGII/III
Date created April 18, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.genomed.org/lovd3/genes/DSC2
External URL ARVD/C Genetic Variants Database
HGNC 3036
Entrez Gene 1824
PubMed articles DSC2
OMIM - Gene 125645
OMIM - Diseases WD (wilson disease)
HGMD DSC2
GeneCards DSC2
GeneTests DSC2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000040 18 desmocollin 2 NM_024422.3 - 77


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