TNNI3K

Chr 1AD

TNNI3 interacting kinase

Also known as: CARK, CCDD

This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cardiac conduction disease with or without dilated cardiomyopathyMIM #616117
AD

Clinical highlights

Gene-disease validity (ClinGen)
dilated cardiomyopathy · ADModerateconsider for supplementary testing
0
Active trials
14
Pubs (1 yr)
P/LP submissions
P/LP missense
1.43
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — TNNI3K
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.43LOEUF
pLI 0.000
Z-score -1.15
OE 1.16 (0.951.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.55Z-score
OE missense 1.07 (1.001.15)
532 obs / 497.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.16 (0.951.43)
00.351.4
Missense OE?1.07 (1.001.15)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 67 / 57.6Missense obs/exp: 532 / 497.3Syn Z: 0.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TNNI3K · 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.

Search ClinicalTrials.gov →