INSRR

Chr 1

insulin receptor related receptor

Also known as: IRR

NCBI Gene: 3645ENSG00000027644UniProt: P14616OMIM: 147671

Enables transmembrane receptor protein tyrosine kinase activity. Involved in actin cytoskeleton organization and cellular response to alkaline pH. Part of signaling receptor complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.000
Z-score 1.87
OE 0.74 (0.58–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.80Z-score
OE missense 0.92 (0.87–0.98)
740 obs / 803.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.58–0.95)
0≤0.351.4
Missense OE?0.92 (0.87–0.98)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 45 / 60.7Missense obs/exp: 740 / 803.9Syn Z: 0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

INSRR · 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