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…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

LOF

Mechanism· predicted