DSTYK dual serine/threonine and tyrosine protein kinase
Gene ID: 25778, updated on 10-Dec-2024Gene type: protein coding
Also known as: RIP5; RIPK5; SPG23; CAKUT1; RHDNS1; DustyPK; HDCMD38P
- See all available tests in GTR for this gene
- Go to complete Gene record for DSTYK
- Go to Variation Viewer for DSTYK variants
Summary
This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. GeneReviews: Not available | |
| Congenital anomalies of kidney and urinary tract 1 | See labs |
| Hereditary spastic paraplegia 23 | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 1q32.1
- Sequence:
- Chromosome: 1; NC_000001.11 (205142505..205211702, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DSTYK 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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