RHBDD1

Chr 2

rhomboid domain containing 1

Also known as: RHBDL4, RRP4

NCBI Gene: 84236ENSG00000144468UniProt: Q8TEB9OMIM: 617515

Enables serine-type endopeptidase activity. Involved in several processes, including cellular response to unfolded protein; membrane protein proteolysis; and positive regulation of protein catabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.71
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.71LOEUF
pLI 0.000
Z-score -0.58
OE 1.16 (0.79–1.71)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.02Z-score
OE missense 1.00 (0.88–1.13)
171 obs / 171.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.16 (0.79–1.71)
0≤0.351.4
Missense OE?1.00 (0.88–1.13)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 17 / 14.6Missense obs/exp: 171 / 171.8Syn Z: -0.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RHBDD1 · 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