TNK2 Chromosome 3

Tyrosine kinase non receptor 2
11 variants 11 Health Risk

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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
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