RBP3

Chr 10AR

retinol binding protein 3

Also known as: D10S64, D10S65, D10S66, IRBP, RBPI, RP66

Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Retinitis pigmentosa 66MIM #615233
AR

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.65
LOEUF
LOF
Mechanism· G2P
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.65LOEUF
pLI 0.000
Z-score 3.05
OE 0.40 (0.26–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.42Z-score
OE missense 1.04 (0.98–1.11)
785 obs / 752.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.40 (0.26–0.65)
0≤0.351.4
Missense OE?1.04 (0.98–1.11)
0≤0.61.4
Synonymous OE?1.28
0≤1.21.6
LoF obs/exp: 12 / 30.1Missense obs/exp: 785 / 752.6Syn Z: -4.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RBP3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Trials that enrol by condition rarely name the gene: inherited retinal dystrophy