Gene data
DSG2- Name
- desmoglein 2
- Type
- protein-coding
- Position
- 31,497,624–31,551,351 (+)
- Aliases
- CDHF5, HDGC
- Ensembl
- ENSG00000046604
- RefSeq RNA
- NM_001943.5, XM_047437315.1, XM_054318237.1
- RefSeq protein
- NP_001934.2, XP_047293271.1, XP_054174212.1
This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
desmoglein 2
- Symbol
- DSG2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 18:31,497,624-31,551,351
- Strand
- Forward (+)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- DSG2 protein.png
Show 9 more facts
- HomoloGene ID
- 1464
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/1829
- genomic end
- 29128971
- genomic start
- 31498177
- chromosome
- human chromosome 18
- cytogenetic location
- 18q12.1
- genetic association
- arrhythmogenic right ventricular cardiomyopathy
- expressed in
- germinal epithelium
Sources (6)
via Wikidata · CC0