DDRGK1 DDRGK domain containing 1
Gene ID: 65992, updated on 5-Mar-2024Gene type: protein coding
Also known as: UFBP1; SEMDSH; C20orf116; dJ1187M17.3
- See all available tests in GTR for this gene
- Go to complete Gene record for DDRGK1
- Go to Variation Viewer for DDRGK1 variants
Summary
The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [provided by RefSeq, Dec 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C. GeneReviews: Not available | |
| ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients. GeneReviews: Not available | |
| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. GeneReviews: Not available | |
| Spondyloepimetaphyseal dysplasia, Shohat type | See labs |
Genomic context
- Location:
- 20p13
- Sequence:
- Chromosome: 20; NC_000020.11 (3190350..3204682, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DDRGK1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- Variation ViewerRelated Variants
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