ITPRIP

Chr 10

inositol 1,4,5-trisphosphate receptor interacting protein

Also known as: D1A, DANGER, KIAA1754, bA127L20, bA127L20.2

NCBI Gene: 85450ENSG00000148841UniProt: Q8IWB1

This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.50
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.50LOEUF
pLI 0.000
Z-score 0.05
OE 0.99 (0.67–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.56Z-score
OE missense 0.92 (0.84–1.00)
332 obs / 362.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.99 (0.67–1.50)
0≤0.351.4
Missense OE?0.92 (0.84–1.00)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 16 / 16.2Missense obs/exp: 332 / 362.1Syn Z: -0.98

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ITPRIP · 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