ILDR2

Chr 1

immunoglobulin like domain containing receptor 2

Also known as: C1orf32, dJ782G3.1

NCBI Gene: 387597 ENSG00000143195 UniProt: Q71H61 OMIM: 618081

ILDR2 encodes a protein that maintains epithelial barrier function at tight junctions, regulates T cell activation, and affects ER stress pathways involved in lipid homeostasis and insulin secretion. Mutations cause autosomal recessive deafness-42 with onset in infancy or early childhood. This gene is highly constrained against loss-of-function variants (pLI 0.95, LOEUF 0.34), indicating that complete loss of protein function is poorly tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Involved in negative regulation of T cell activation. Predicted to be located in tight junction. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.34

Clinical Summary— ILDR2

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.95). One damaged copy is likely sufficient to cause disease.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.34LOEUF

pLI 0.954

Z-score 4.13

OE 0.15 (0.07–0.34)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

1.26Z-score

OE missense 0.81 (0.73–0.89)

273 obs / 338.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.15 (0.07–0.34)

0≤0.351.4

Missense OE?0.81 (0.73–0.89)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 4 / 27.3Missense obs/exp: 273 / 338.0Syn Z: 0.46

This gene — mechanism propensity

0.5772th %ile

GOF

0.5562th %ile

LOF

0.64top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.34

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.