RBP2

Chr 3

retinol binding protein 2

Also known as: CRABP-II, CRBP-II, CRBP2, CRBPII, RBPC2

NCBI Gene: 5948 ENSG00000114113 UniProt: P29375 OMIM: 180280

This gene encodes an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. This protein may also modulate the supply of retinoic acid to the nuclei of endometrial cells during the menstrual cycle. [provided by RefSeq, Aug 2015]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEl Hayek-Chahrour neurodevelopmental syndrome

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.88

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.88LOEUF

pLI 0.221

Z-score 1.78

OE 0.28 (0.11–0.88)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.38Z-score

OE missense 0.88 (0.73–1.07)

71 obs / 80.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.28 (0.11–0.88)

0≤0.351.4

Missense OE?0.88 (0.73–1.07)

0≤0.61.4

Synonymous OE?0.69

0≤1.21.6

LoF obs/exp: 2 / 7.1Missense obs/exp: 71 / 80.5Syn Z: 1.26

Background carrier burden — how many people carry a rare variant somewhere in RBP2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 360

169 rare PASS variants

Rare truncating (LoF)

1 in 2,100

39 rare PASS variants

Rare synonymous (reference)

1 in 660

56 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RBP2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 530	1 in 6,400
South Asian	~43k	1 in 250	1 in 2,400
Remaining (unassigned)	~30k	1 in 310	1 in 860
European (Finnish)	~27k	1 in 610	none seen
Admixed American	~22k	1 in 240	≈ 1 in 22,000
African / African American	~21k	1 in 190	1 in 2,400
East Asian	~20k	1 in 380	1 in 550
Ashkenazi Jewish	~13k	≈ 1 in 13,000	none seen
Middle Eastern	~2,884	1 in 480	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓