Home > Gene Browser > TNK2
TNK2
- Synonyms
- ACK, ACK-1, ACK1, p21cdc42Hs
- External resources
- NCBI10188
- OMIM606994
- EnsemblENSG00000061938
- HGNCHGNC:19297
- Summary
- 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.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 0
- Likely pathogenic
- 0
- VUS
- 27,484
- Likely benign
- 4,789
- Benign
- 272
Patient phenotypes
No patients carry pathogenic or likely pathogenic variants on TNK2 gene.
- Phenotype class
- Patients in 3billion (%)
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