RTP5

Chr 2

receptor transporter protein 5 (putative)

Also known as: C2orf85, CXXC11, Z3CXXC5

NCBI Gene: 285093ENSG00000188011UniProt: Q14D33

Predicted to enable olfactory receptor binding activity. Predicted to be involved in detection of chemical stimulus involved in sensory perception of bitter taste; protein insertion into membrane; and protein targeting to membrane. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.93
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.93LOEUF
pLI 0.016
Z-score -0.58
OE 1.55 (0.47–1.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.17Z-score
OE missense 0.97 (0.89–1.07)
331 obs / 339.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.55 (0.47–1.93)
0≤0.351.4
Missense OE?0.97 (0.89–1.07)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 2 / 1.3Missense obs/exp: 331 / 339.9Syn Z: -0.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RTP5 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients