GAK cyclin G associated kinase
Gene ID: 2580, updated on 2-Nov-2024Gene type: protein coding
Also known as: DNAJ26; DNAJC26
- See all available tests in GTR for this gene
- Go to complete Gene record for GAK
- Go to Variation Viewer for GAK variants
Summary
In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. GeneReviews: Not available | |
| Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. GeneReviews: Not available | |
| Genomewide association study for susceptibility genes contributing to familial Parkinson disease. GeneReviews: Not available | |
| Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. GeneReviews: Not available | |
| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. GeneReviews: Not available | |
| Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. GeneReviews: Not available |
Genomic context
- Location:
- 4p16.3
- Sequence:
- Chromosome: 4; NC_000004.12 (849277..932316, complement)
- Total number of exons:
- 33
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GAK variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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