RTP4

Chr 3

receptor transporter protein 4

Also known as: IFRG28, Z3CXXC4

NCBI Gene: 64108 ENSG00000136514 UniProt: Q96DX8 OMIM: 609350

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. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 1.03

Clinical Summary— RTP4

⚡

Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.60) — some intolerance to loss-of-function variants.

📋

ClinVar Variants

25 VUS of 31 total submissions

Explore recent and relevant literature in Research Assistant →

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

ClinVar Variant Classifications

31 submitted variants in ClinVar

ClinVar

Classification Summary

VUS25

Likely Benign4

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	25	0	25
Likely Benign	3	1	4
Benign	0	0	0
Total	28	1	29

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

39 pathogenic / likely-pathogenic (of 41) ClinVar copy-number / structural variants overlap RTP4 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →