Gene: PTK2B

Alternate names for this Gene: CADTK|CAKB|FADK2|FAK2|PKB|PTK|PYK2|RAFTK

Gene Summary: This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8p21.2

Description of this Gene: protein tyrosine kinase 2 beta

Type of Gene: protein-coding

rs10109834 in PTK2B gene and Alzheimer's Disease PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

PMID 24162737 2013 Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.

PMID 30617256 2019 Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

PMID 31473137 2019 Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project.

rs117176448 in PTK2B gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs11776693 in PTK2B gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17057051 in PTK2B gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs2322599 in PTK2B gene and Takayasu Arteritis PMID 30498034 2018 Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis.

rs6987305 in PTK2B gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.