RBP3

Chr 10q11.22

retinol binding protein 3

Aliases:: D10S64, D10S65, D10S66, RP66, IRBP
MANE:: ENST00000584701.2

OMIM: 180290 ↗NCBI: 5949 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RBP3 · P10745

v62025-08-01

Predicted Aligned Error matrix for RBP3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.8/ 100

Confident

1,247 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)39%
Low(50–70)7%
Very low(< 50)6%

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)

retinitis pigmentosa
0.73
Retinal dystrophy
0.53
neurodegenerative disease
0.46
Cone rod dystrophy
0.36
cone-rod dystrophy
0.34
autosomal recessive retinitis pigmentosa
0.34
hypercholesterolemia, familial, 1
0.33
congenital stationary night blindness
0.28
hereditary disease
0.19
optic atrophy
0.11

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

Protein function (UniProt)

Retinol-binding protein 3

Mediates the transport of 11-cis- and all-trans-retinoids between the retinal pigment epithelium (RPE) and photoreceptors, facilitating retinoid exchange required for the visual cycle