DSC3

GENE INFORMATION

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Gene name

DSC3 (HGNC Symbol)

Synonyms

CDHF3, DSC, DSC1, DSC2, DSC4

Description

Desmocollin 3 (HGNC Symbol)

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 a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Chromosome

18

Cytoband

q12.1

Chromosome location (bp)

28569974 - 28622781

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000134762 (version 75.37)

Entrez gene

1825

UniProt

Q14574 (UniProt - Evidence at protein level)

neXtProt

NX_Q14574

Antibodypedia

DSC3 antibodies
 

PROTEIN VIEW

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DSC3-001
 
DSC3-002
 
DSC3-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DSC3-001 ENSP00000353608
ENST00000360428
Q14574
Show all »
Show » Show » 896 100 Yes 1
DSC3-002 ENSP00000464283
ENST00000584980
Show » 214 23 No 1
DSC3-201 ENSP00000392068
ENST00000434452
Q14574
Show all »
Show » Show » 839 93.5 Yes 1