Desmocollin-2

Alternative Names

  • Desmocollin 3, Formerly
  • DSC3, Formerly
  • Desmosomal Glycoprotein II/III
  • DG2/3
  • DG2
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OMIM Number

125645

NCBI Gene ID

1824

Uniprot ID

Q02487

Length

43,683 bases

No. of Exons

18

No. of isoforms

2

Protein Name

Desmocollin-2

Molecular Mass

99962 Da

Amino Acid Count

901

Genomic Location

chr18:31,058,840-31,102,522

Gene Map Locus
18q12.1

Description

Desmosomes are key proteins in cell adhesion junctions, particularly in the epidermis and cardiac tissue and are important for the rigidity and strength of the cells. They are also believed to play a role in chemical signalling pathways, cell differentiation and cell apoptosis. The DSC2 gene encodes a protein that forms a major component of desmosomes. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_024422.4:c.712_714delGATLebanonchr18:31087732-31087734Likely PathogenicArrhythmogenic Right Ventricular Dysplasia, Familial, 11 NG_008208.2:g.19694_19696delGAT; NM_024422.4:c.712_714delGAT; NP_077740.1:p.Asp238del765560490
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