Gene: DNAJC6

Alternate names for this Gene: DJC6|PARK19

Gene Summary: DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 1

Location in Chromosome : 1p31.3

Description of this Gene: DnaJ heat shock protein family (Hsp40) member C6

Type of Gene: protein-coding

rs10789181 in DNAJC6 gene and Age at menarche PMID 25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

rs2477786 in DNAJC6 gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs879255630 in DNAJC6 gene and PARKINSON DISEASE 19A, JUVENILE-ONSET PMID 26528954 2016 DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

rs1413885 in DNAJC6 gene and Protein C antigen measurement PMID 22216198 2011 A genome-wide association study of the Protein C anticoagulant pathway.

rs1413885 in DNAJC6 gene and Protein C measurement PMID 22216198 2011 A genome-wide association study of the Protein C anticoagulant pathway.

rs1413885 in DNAJC6 gene and Protein S measurement PMID 22216198 2011 No SNPs were significantly associated with functional or total protein S plasma levels, although rs1413885 from DNAJC6 showed suggestive association with the functional protein S phenotype, possibly indicating that this locus plays an important role in protein S metabolism.

rs6672992 in DNAJC6 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.