Gene: PRKD2

Alternate names for this Gene: HSPC187|PKD2|nPKC-D2

Gene Summary: The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: protein kinase D2

Type of Gene: protein-coding

rs60652743 in PRKD2 gene and Cholangitis, Sclerosing PMID 23603763 2013 Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

PMID 27992413 2017 Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.

rs11083846 in PRKD2 gene and Chronic Lymphocytic Leukemia PMID 18758461 2008 We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37.1 (rs13397985, SP140; P = 5.40 x 10(-10)), 6p25.3 (rs872071, IRF4; P = 1.91 x 10(-20)), 11q24.1 (rs735665; P = 3.78 x 10(-12)), 15q23 (rs7176508; P = 4.54 x 10(-12)) and 19q13.32 (rs11083846, PRKD2; P = 3.96 x 10(-9)).

rs402072 in PRKD2 gene and Diabetes Mellitus, Insulin-Dependent PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

PMID 19430480 2009 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

rs114855972 in PRKD2 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs425105 in PRKD2 gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs11083846 in PRKD2 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs60652743 in PRKD2 gene and Primary sclerosing cholangitis PMID 23603763 2013 Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

rs11083846 in PRKD2 gene and Small Lymphocytic Lymphoma PMID 18758461 2008 A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.