Gene Symbol |
DSC2
|
Entrez Gene |
1824
|
Alt Symbol |
ARVD11, CDHF2, DG2, DGII/III, DSC3
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
desmocollin 2
|
Other Description |
cadherin family member 2|desmocollin-2|desmosomal glycoprotein II/III
|
Swissprots |
Q02487
|
Accessions |
ABM88172 CAL91822 CAL91823 EAX01250 EAX01251 Q02487 AK290313 BAF83002 AK297029 BAG59557 BC063291 AAH63291 BE350090 BE813598 BU735677 BX648425 CAH56152 CR749226 CAH18082 DC382631 EF017811 ABM88170 EF017812 ABM88171 X56807 CAA40141 XM_005258206 XP_005258263 NM_004949 NP_004940 NM_024422 NP_077740
|
Function |
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.
|
Subcellular Location |
Cell membrane {ECO:0000269|PubMed:21062920}; Single-pass type I membrane protein {ECO:0000269|PubMed:21062920}. Cell junction, desmosome {ECO:0000269|PubMed:21062920}.
|
Tissue Specificity |
Expressed in epithelia, myocardium and lymph nodes.
|
Top Pathways |
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
|