TNK2

Chr 3

tyrosine kinase non receptor 2

Also known as: ACK, ACK-1, ACK1, p21cdc42Hs

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]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
epilepsy · ARRefutedevidence has disproved this relationship
0
Active trials
11
Pubs (1 yr)
P/LP submissions
P/LP missense
0.80
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.000
Z-score 2.61
OE 0.57 (0.420.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.20Z-score
OE missense 1.02 (0.961.09)
710 obs / 695.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.57 (0.420.80)
00.351.4
Missense OE?1.02 (0.961.09)
00.61.4
Synonymous OE?1.36
01.21.6
LoF obs/exp: 25 / 43.6Missense obs/exp: 710 / 695.0Syn Z: -4.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TNK2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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