DSC2 desmocollin 2
Gene ID: 1824, updated on 29-Mar-2023Gene type: protein coding
Also known as: DG2; DSC3; CDHF2; ARVD11; DGII/III
- See all available tests in GTR for this gene
- Go to complete Gene record for DSC2
- Go to Variation Viewer for DSC2 variants
Summary
This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study (GWAS) for bronchopulmonary dysplasia. GeneReviews: Not available | |
| Arrhythmogenic right ventricular cardiomyopathy MedGen: C0349788GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy | See labs |
| Arrhythmogenic right ventricular dysplasia 11 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2016-01-14) ClinGen Genome Curation PageHaploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2016-01-14) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 18q12.1
- Sequence:
- Chromosome: 18; NC_000018.10 (31058840..31102421, complement)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | GeneView ReportGo to Variation Viewer for DSC2 variants |
| 1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ARVD/C Genetic Variants Database - DSC2
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DSC2 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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