CIB2
Chr 15ARcalcium and integrin binding family member 2
Also known as: DFNB48, KIP2, USH1J
The protein encoded by CIB2 is a calcium-binding regulatory protein that acts as an auxiliary subunit of mechanotransduction channels in hair cells and is essential for hearing, while also playing a critical role in photoreceptor cell maintenance. Mutations cause autosomal recessive nonsyndromic deafness (DFNB48) and Usher syndrome type 1J, which combines congenital profound hearing loss with progressive vision loss due to retinitis pigmentosa. The gene shows relatively low constraint against loss-of-function variants (pLI 0.001, LOEUF 1.09), but mutations consistently affect both auditory and visual function when present.
Refuted — evidence has disproved this relationship
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CIB2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools