CABP4

Chr 11q13.2

calcium binding protein 4

Aliases:: CSNB2B
MANE:: ENST00000325656.7

OMIM: 608965 ↗NCBI: 57010 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CABP4 · P57796

v62025-08-01

Predicted Aligned Error matrix for CABP4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.4/ 100

Low

275 residues

Confidence breakdown

Very high(≥ 90)1%
Confident(70–90)41%
Low(50–70)34%
Very low(< 50)24%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital stationary night blindness
0.70
Retinal dystrophy
0.51
Cone rod dystrophy
0.45
cone-rod dystrophy
0.44
autosomal dominant nocturnal frontal lobe epilepsy
0.38
achromatopsia
0.38
sleep-related hypermotor epilepsy
0.37
familial sleep-related hypermotor epilepsy
0.37
eye disorder
0.34
Usher syndrome
0.29

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

Protein function (UniProt)

Calcium-binding protein 4

Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity)

Curated MONDO disease pages that list CABP4 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with CABP4