ITPRIPL1
Chr 2ITPRIP like 1
Also known as: D1B, KIAA1754L
The protein functions as a ligand of CD3E that inhibits T cell receptor signaling by preventing CD3E-ZAP70 interaction and downstream ERK-NFkB cascade activation. Mutations cause autosomal recessive severe combined immunodeficiency and autosomal recessive T cell immunodeficiency. The gene shows extremely low constraint against loss-of-function variants, suggesting tolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
163 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 10 | 0 | 10 |
VUS | 0 | 88 | 33 | 0 | 121 |
Likely Benign | 0 | 2 | 2 | 0 | 4 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 90 | 67 | 0 | 157 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ITPRIPL1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools