CBY1

Chr 22q13.1

chibby 1, beta catenin antagonist

Aliases:: PIGEA14, PIGEA-14, Chibby, Cby, Chibby1
MANE:: ENST00000216029.8

OMIM: 607757 ↗NCBI: 25776 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CBY1 · Q9Y3M2

v62025-08-01

Predicted Aligned Error matrix for CBY1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.8/ 100

Confident

126 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)47%
Low(50–70)10%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Joubert syndrome
0.61
polydactyly
0.46
aceruloplasminemia
0.46
Intellectual disability
0.46
cerebellar ataxia
0.46
Molar tooth sign on MRI
0.46
hereditary disease
0.17
hypothyroidism
0.14
Familial prostate cancer
0.11
prostate cancer
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein chibby homolog 1

Inhibits the Wnt/Wingless pathway by binding to CTNNB1/beta-catenin and inhibiting beta-catenin-mediated transcriptional activation through competition with TCF/LEF transcription factors (PubMed:12712206, PubMed:19435523). Has also been shown to play a role in regulating the intracellular trafficking of polycystin-2/PKD2 and possibly of other intracellular proteins (PubMed:15194699). Promotes adipocyte and cardiomyocyte differentiation (By similarity)