RTP4

Chr 3

receptor transporter protein 4

Also known as: IFRG28, Z3CXXC4

NCBI Gene: 64108 ENSG00000136514 UniProt: Q96DX8

Predicted to enable olfactory receptor binding activity. Involved in detection of chemical stimulus involved in sensory perception of bitter taste and protein targeting to membrane. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

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

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.03

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

1.03LOEUF

pLI 0.596

Z-score 1.56

OE 0.00 (0.00–1.03)

Moderately constrained

Highly tolerant — LoF variants common in population

Missense Constraint?

0.29Z-score

OE missense 0.93 (0.80–1.08)

122 obs / 131.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.00 (0.00–1.03)

0≤0.351.4

Missense OE?0.93 (0.80–1.08)

0≤0.61.4

Synonymous OE?0.70

0≤1.21.6

LoF obs/exp: 0 / 2.8Missense obs/exp: 122 / 131.4Syn Z: 1.74

Background carrier burden — how many people carry a rare variant somewhere in RTP4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 200

286 rare PASS variants

Rare truncating (LoF)

1 in 1,800

47 rare PASS variants

Rare synonymous (reference)

1 in 890

118 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RTP4. 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 270	1 in 2,900
South Asian	~43k	1 in 270	1 in 880
Remaining (unassigned)	~30k	1 in 150	1 in 1,100
European (Finnish)	~27k	1 in 2,900	none seen
Admixed American	~22k	1 in 220	1 in 2,800
African / African American	~21k	1 in 220	1 in 3,000
East Asian	~20k	1 in 440	1 in 1,800
Ashkenazi Jewish	~13k	≈ 1 in 3,300	none seen
Middle Eastern	~2,884	1 in 140	≈ 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 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓