Gene: GAK

Alternate names for this Gene: DNAJ26|DNAJC26

Gene 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.3

Description of this Gene: cyclin G associated kinase

Type of Gene: protein-coding

rs4690203 in GAK gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs11248051 in GAK gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs3775121 in GAK gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs11248051 in GAK gene and Parkinson Disease PMID 20711177 2010 Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.

PMID 22438815 2012 Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

PMID 18985386 2009 Genomewide association study for susceptibility genes contributing to familial Parkinson disease.

PMID 21258085 2011 Microarray expression analysis of post-mortem frontal cortex from PD and control brains demonstrates a significant association between rs1564282 and higher α-synuclein expression, a known cause of early onset PD.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs1564282 in GAK gene and Triglycerides measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.