TNK2 Chromosome 3

Tyrosine kinase non receptor 2
11 variants 11 Health Risk

Upload your DNA to see your personal genotypes for variants in TNK2.

What This Gene Does
This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"TNK family tyrosine kinases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
3q29
Ensembl
ENSG00000061938
Associated Conditions (5)
Parkinson disease
Autosomal recessive infantile epilepsy
Infantile epilepsy
TNK2-related disorder
Epileptic encephalopathy
Key Variants
All Variants (11)
RSID Category Clinical Significance Conditions
RS111618622 Health Risk Conflicting classifications of pathogenicity —
RS112384084 Health Risk Conflicting classifications of pathogenicity Parkinson disease, Parkinson disease
RS139797100 Health Risk Conflicting classifications of pathogenicity —
RS145862992 Health Risk Conflicting classifications of pathogenicity —
RS149257266 Health Risk Conflicting classifications of pathogenicity —
RS199694736 Health Risk Conflicting classifications of pathogenicity —
RS201407161 Health Risk Conflicting classifications of pathogenicity Autosomal recessive infantile epilepsy, Parkinson disease, Infantile epilepsy
RS201461833 Health Risk Conflicting classifications of pathogenicity —
RS202015088 Health Risk Conflicting classifications of pathogenicity TNK2-related disorder, TNK2-related disorder
RS376649198 Health Risk Conflicting classifications of pathogenicity —
RS1418694748 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
Sign Up to Analyze Your DNA Log In