Identity
HGNC
LOCATION
18q12.1
LOCUSID
ALIAS
ARVD11,CDHF2,DG2,DGII/III,DSC3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1824
MIM: 125645
HGNC: 3036
Ensembl: ENSG00000134755
Variants:
dbSNP: 1824
ClinVar: 1824
TCGA: ENSG00000134755
COSMIC: DSC2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000134755 | ENST00000251081 | Q02487 |
| ENSG00000134755 | ENST00000280904 | Q02487 |
| ENSG00000134755 | ENST00000648081 | A0A3B3ISU0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA134871907 | TMEM43 | Gene | DataAnnotation | associated | |||
| PA27502 | DSG2 | Gene | DataAnnotation | associated | |||
| PA27505 | DSP | Gene | DataAnnotation | associated | |||
| PA33357 | PKP2 | Gene | DataAnnotation | associated | |||
| PA446847 | Arrhythmogenic Right Ventricular Dysplasia | Disease | DataAnnotation, Literature, MultilinkAnnotation | associated | 23788249 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38671389 | 2024 | Desmoglein 2 and desmocollin 2 depletions promote malignancy through distinct mechanisms in triple-negative and luminal breast cancer. | 0 |
| 38671389 | 2024 | Desmoglein 2 and desmocollin 2 depletions promote malignancy through distinct mechanisms in triple-negative and luminal breast cancer. | 0 |
| 37421607 | 2023 | DSC2 suppresses the growth of gastric cancer through the inhibition of nuclear translocation of γ-catenin and PTEN/PI3K/AKT signaling pathway. | 0 |
| 37421607 | 2023 | DSC2 suppresses the growth of gastric cancer through the inhibition of nuclear translocation of γ-catenin and PTEN/PI3K/AKT signaling pathway. | 0 |
| 33596089 | 2021 | Regulation of intestinal epithelial intercellular adhesion and barrier function by desmosomal cadherin desmocollin-2. | 18 |
| 33784018 | 2021 | Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy. | 18 |
| 34819141 | 2021 | Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation. | 7 |
| 33596089 | 2021 | Regulation of intestinal epithelial intercellular adhesion and barrier function by desmosomal cadherin desmocollin-2. | 18 |
| 33784018 | 2021 | Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy. | 18 |
| 34819141 | 2021 | Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation. | 7 |
| 31967937 | 2020 | Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration. | 20 |
| 32201174 | 2020 | A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy. | 20 |
| 31967937 | 2020 | Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration. | 20 |
| 32201174 | 2020 | A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy. | 20 |
| 30942563 | 2019 | Incorporation of desmocollin-2 into the plasma membrane requires N-glycosylation at multiple sites. | 9 |
Citation
Dessen P
DSC2 (desmocollin 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46039/dsc2-(desmocollin-2)
