CABP2

Chr 11q13.2

calcium binding protein 2

MANE:: ENST00000294288.5

OMIM: 607314 ↗NCBI: 51475 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CABP2 · Q9NPB3

v62025-08-01

Predicted Aligned Error matrix for CABP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.1/ 100

Low

220 residues

Confidence breakdown

Very high(≥ 90)12%
Confident(70–90)52%
Low(50–70)7%
Very low(< 50)29%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Auditory Neuropathy Spectrum Disorde
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hearing loss, autosomal recessive
0.66
deafness
0.66
nonsyndromic genetic hearing loss
0.40
Non-syndromic genetic deafness
0.38
hereditary disease
0.19
neurodegenerative disease
0.17
Hearing impairment
0.12
autism
0.11
Abnormality of refraction
0.09
autosomal dominant nonsyndromic hearing loss
0.09

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

Protein function (UniProt)

Calcium-binding protein 2

Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs (PubMed:28183797). Required for the normal transfer of light signals through the retina (By similarity)