CTNNBIP1

Chr 1

catenin beta interacting protein 1

Also known as: ICAT

The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a negative regulator of the Wnt signaling pathway. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
11
Pubs (1 yr)
P/LP submissions
P/LP missense
1.38
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.38LOEUF
pLI 0.025
Z-score 0.99
OE 0.54 (0.251.38)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.53Z-score
OE missense 0.80 (0.621.03)
43 obs / 53.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.251.38)
00.351.4
Missense OE?0.80 (0.621.03)
00.61.4
Synonymous OE?1.30
01.21.6
LoF obs/exp: 3 / 5.5Missense obs/exp: 43 / 53.9Syn Z: -1.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CTNNBIP1 · 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 →