RBP5

Chr 12

retinol binding protein 5

Also known as: CRBP-III, CRBP3, CRBPIII, HRBPiso

The protein encoded by this gene is a cellular retinol-binding protein expressed highly in kidney and liver. Down-regulation of the encoded protein in hepatocellular carcinoma was associated with large tumor size and poor patient survival rates. [provided by RefSeq, Jul 2016]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.59
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.59LOEUF
pLI 0.000
Z-score 0.35
OE 0.87 (0.491.59)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.40Z-score
OE missense 0.87 (0.721.07)
70 obs / 80.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.87 (0.491.59)
00.351.4
Missense OE?0.87 (0.721.07)
00.61.4
Synonymous OE?0.66
01.21.6
LoF obs/exp: 7 / 8.1Missense obs/exp: 70 / 80.1Syn Z: 1.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RBP5 · 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.

Search ClinicalTrials.gov →