ILDR1: Immunoglobulin-Like Domain Containing Receptor 1
Key gene in hearing and epithelial barrier function
Gene Information Card
| Symbol | ILDR1 |
|---|---|
| Full Name | Immunoglobulin-Like Domain Containing Receptor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.33 |
| NCBI Gene ID | 286676 ncbi.nlm.nih.gov/gene/286676 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q86SU0 |
| OMIM ID | 609739 |
| HGNC ID | 28726 |
| Aliases | DFNB42, FLJ23420, MGC138499, MGC138500 |
Description
ILDR1 encodes immunoglobulin-like domain containing receptor 1, a protein involved in the formation of tricellular tight junctions, which are essential for maintaining epithelial barrier integrity. It is highly expressed in the inner ear and plays a critical role in hearing. Mutations in ILDR1 cause autosomal recessive non-syndromic hearing loss (DFNB42).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive non-syndromic hearing loss (DFNB42) | Loss-of-function mutations in ILDR1 disrupt tricellular tight junctions in the inner ear, leading to sensorineural hearing loss. | ClinVar, OMIM |
| Non-syndromic hearing loss | ILDR1 mutations impair epithelial barrier function in the cochlea, causing progressive hearing loss. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Low |
| Testis | 6.7 | Low |
| Inner ear (cochlea) | 20.1 | High |
| Small intestine | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.4 | Low expression |
| HepG2 | 3.2 | Low expression |
| A549 | 7.8 | Moderate expression |
| Caco-2 | 18.9 | High expression (intestinal epithelial model) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | Rare | Likely pathogenic; disrupts protein function |
| c.325G>A (p.Gly109Arg) | Missense | Rare | Pathogenic; associated with DFNB42 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; causes hearing loss |
Mutation functional classification
Loss of Function (LOF)
Most ILDR1 mutations are loss-of-function, leading to defective tricellular tight junctions and hearing loss.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cell-cell junction (GO:0005911) | • bicellular tight junction (GO:0005923) |
| • tricellular tight junction (GO:0070160) | • protein binding (GO:0005515) |
| • sensory perception of sound (GO:0007605) |
Pathways
• Tricellular tight junction assembly
• Epithelial barrier function
Protein Summary
ILDR1 is a transmembrane protein with an immunoglobulin-like domain, localized at tricellular tight junctions. It interacts with other tight junction proteins to maintain epithelial barrier integrity, particularly in the inner ear. Loss of ILDR1 function compromises the barrier, leading to ion imbalance and hair cell degeneration, resulting in hearing loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ILDR1 Knockout HEK293 Cell Line | EDJ-KQ13829 | Human | 286676 | Details Get a Quote |
| ILDR1 Knockout HCT 116 Cell Line | EDJ-KQ43653 | Human | 286676 | Details Get a Quote |
| ILDR1 Knockout HeLa Cell Line | EDJ-KQ59562 | Human | 286676 | Details Get a Quote |
| ILDR1 Knockout A-549 Cell Line | EDJ-KQ68028 | Human | 286676 | Details Get a Quote |
