AlphaFold predicted structure
CIB2 · O75838
Mean pLDDT
88.6/ 100
Confident
187 residues
Confidence breakdown
- Very high(≥ 90)67%
- Confident(70–90)27%
- Low(50–70)4%
- Very low(< 50)2%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CIB2
Chr 15q25.1calcium and integrin binding family member 2
- Aliases:
- KIP2
- MANE:
- ENST00000258930.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalStructural eye disease
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
hearing loss, autosomal recessive
0.70Usher syndrome
0.68deafness
0.65Usher syndrome type 1
0.62neurodegenerative disease
0.43Non-syndromic genetic deafness
0.39nonsyndromic deafness
0.38hearing loss disorder
0.37nonsyndromic genetic hearing loss
0.37Rare genetic deafness
0.35
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Calcium and integrin-binding family member 2
Calcium- and integrin-binding protein that plays a role in intracellular calcium homeostasis (By similarity). Acts as an auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel in hair cells (By similarity). Essential for mechanoelectrical transduction (MET) currents in auditory hair cells and thereby required for hearing (By similarity). Regulates the function of hair cell mechanotransduction by controlling the distribution of transmembrane channel-like proteins TMC1 and TMC2, and by regulating the function of the MET channels in hair cells (By similarity). Required for the maintenance of auditory hair cell stereocilia bundle morphology and function and for hair-cell survival in the cochlea (By similarity). Critical for proper photoreceptor cell maintenance and function (By similarity). Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release (PubMed:23023331, PubMed:26173970, PubMed:26426422)
Diseases associated with CIB2
Curated MONDO disease pages that list CIB2 among their top associated genes.