TNK2 Chromosome 3
Tyrosine kinase non receptor 2
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
RS111618622
Conflicting classifications of pathogenicity
Health Risk
RS112384084
Conflicting classifications of pathogenicity
Parkinson disease, Parkinson disease
Health Risk
RS139797100
Conflicting classifications of pathogenicity
Health Risk
RS145862992
Conflicting classifications of pathogenicity
Health Risk
RS149257266
Conflicting classifications of pathogenicity
Health Risk
RS199694736
Conflicting classifications of pathogenicity
Health Risk
RS201407161
Conflicting classifications of pathogenicity
Autosomal recessive infantile epilepsy, Parkinson disease, Infantile epilepsy
Health Risk
RS201461833
Conflicting classifications of pathogenicity
Health Risk
RS202015088
Conflicting classifications of pathogenicity
TNK2-related disorder, TNK2-related disorder
Health Risk
RS376649198
Conflicting classifications of pathogenicity
Health Risk
RS1418694748
Pathogenic
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
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 |