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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ILDR1
immunoglobulin like domain containing receptor 1
Chromosome 3 Β· 3q13.33
NCBI Gene: 286676Ensembl: ENSG00000145103.16HGNC: HGNC:28741UniProt: Q86SU0
25PubMed Papers
21Diseases
0Drugs
35Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein-containing complexprotein bindingidentical protein bindingtight junctionhearing loss, autosomal recessivedeafnesshearing lossage-related hearing impairment
✦AI Summary

ILDR1 (immunoglobulin-like domain containing receptor 1) is a multifunctional protein with critical roles in epithelial barrier integrity and metabolic signaling. Structurally, ILDR1 localizes to tricellular tight junctions (tTJs) where it maintains their ultrastructure and function 1. As a lipoprotein receptor, ILDR1 mediates fat-stimulated cholecystokinin (CCK) secretion in intestinal enteroendocrine cells through a mechanism requiring both fatty acids and high-density lipoprotein particles 2. Clinically, ILDR1 mutations cause autosomal recessive nonsyndromic hearing loss (DFNB42) 13. ILDR1-deficient mice exhibit early-onset severe deafness with progressive degeneration of cochlear outer hair cells and disruption of the organ of Corti, while maintaining normal endocochlear potential 4. The deafness mechanism involves tricellulin mislocalization and altered expression of proteins involved in cell adhesion and cellular homeostasis. Additionally, genome-wide association studies identified ILDR1 variants associated with age-related hearing loss (ARHL) in the general population 5. Beyond otologic disease, ILDR1 is significantly overexpressed in gastric cancer tissues and correlates with poor prognosis, suggesting potential oncologic significance 6. Together, these findings establish ILDR1 as essential for tTJ maintenance, endocrine hormone secretion, and hearing preservation.

Sources cited
1
ILDR1 localizes to tricellular tight junctions and maintains their ultrastructure; ILDR1 null mice develop early-onset deafness with hair cell degeneration
PMID: 25217574
2
ILDR1 is a lipoprotein receptor mediating fat-stimulated CCK secretion in intestinal cells
PMID: 23863714
3
ILDR1 mutations cause autosomal recessive nonsyndromic hearing loss (DFNB42)
PMID: 29224747
4
ILDR1 deficiency causes progressive degeneration of outer hair cells and disruption of the organ of Corti
PMID: 25819842
5
ILDR1 variants are associated with age-related hearing loss in genome-wide association studies
PMID: 31989664
6
ILDR1 is overexpressed in gastric cancer and associated with poor prognosis
PMID: 36091962
7
ILDR1 is an angulin family protein localized at tricellular tight junctions in the inner ear
PMID: 27195292
Disease Associationsβ“˜21
hearing loss, autosomal recessiveOpen Targets
0.72Strong
deafnessOpen Targets
0.62Moderate
hearing lossOpen Targets
0.49Moderate
age-related hearing impairmentOpen Targets
0.47Moderate
nonsyndromic genetic hearing lossOpen Targets
0.45Moderate
hypothyroidismOpen Targets
0.41Moderate
Non-syndromic genetic deafnessOpen Targets
0.39Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.35Weak
Rare genetic deafnessOpen Targets
0.35Weak
myxedemaOpen Targets
0.34Weak
Hearing impairmentOpen Targets
0.32Weak
pituitary gland diseaseOpen Targets
0.32Weak
sensorineural hearing lossOpen Targets
0.31Weak
lymphatic system cancerOpen Targets
0.28Weak
Congenital sensorineural hearing impairmentOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
multiple sclerosisOpen Targets
0.15Weak
gastric cancerOpen Targets
0.08Suggestive
respiratory system diseaseOpen Targets
0.08Suggestive
X-linked nonsyndromic hearing lossOpen Targets
0.08Suggestive
Deafness, autosomal recessive, 42UniProt
Pathogenic Variants35
NM_001199799.2(ILDR1):c.421G>C (p.Gly141Arg)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 42
β˜…β˜…β˜†β˜†2026β†’ Residue 141
NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 42|Rare genetic deafness
β˜…β˜…β˜†β˜†2025β†’ Residue 195
NM_001199799.2(ILDR1):c.745del (p.Ser249fs)Pathogenic
Congenital sensorineural hearing impairment|not provided|Autosomal recessive nonsyndromic hearing loss 42
β˜…β˜…β˜†β˜†2025β†’ Residue 249
NM_001199799.2(ILDR1):c.942C>A (p.Cys314Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 42|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 314
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 42|Hearing loss, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 462
NM_001199799.2(ILDR1):c.775C>T (p.Arg259Ter)Pathogenic
Childhood onset hearing loss|not provided|ILDR1-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 259
NM_001199799.2(ILDR1):c.316del (p.Arg106fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 106
NM_001199799.2(ILDR1):c.102_105del (p.Arg33_Tyr34insTer)Pathogenic
Autosomal recessive nonsyndromic hearing loss 42
β˜…β˜†β˜†β˜†2025β†’ Residue 33
NM_001199799.2(ILDR1):c.98_99insAA (p.Tyr34fs)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 42
β˜…β˜†β˜†β˜†2025β†’ Residue 34
NM_001199799.2(ILDR1):c.28del (p.Trp10fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 42
β˜…β˜†β˜†β˜†2025β†’ Residue 10
NM_001199799.2(ILDR1):c.247del (p.Ser83fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 42
β˜…β˜†β˜†β˜†2025β†’ Residue 83
NM_001199799.2(ILDR1):c.1141C>T (p.Gln381Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 42
β˜…β˜†β˜†β˜†2025β†’ Residue 381
NM_001199799.2(ILDR1):c.353_357dup (p.Arg120fs)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 42
β˜…β˜†β˜†β˜†2025β†’ Residue 120
NM_001199799.2(ILDR1):c.1074del (p.Ser359fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 359
NM_001199799.2(ILDR1):c.720G>A (p.Trp240Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 240
NM_001199799.2(ILDR1):c.234C>A (p.Tyr78Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 78
NM_001199799.2(ILDR1):c.2T>C (p.Met1Thr)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_001199799.2(ILDR1):c.810del (p.Met270fs)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 42
β˜…β˜†β˜†β˜†2023β†’ Residue 270
NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 42
β˜…β˜†β˜†β˜†2023β†’ Residue 394
NM_001199799.2(ILDR1):c.279del (p.Asn93fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 93
View on ClinVar β†—
Related Genes
MARVELD2Protein interaction86%RBM12BShared pathway20%LDLRAD1Shared pathway20%SFT2D2Shared pathway20%TMED8Shared pathway20%CD163L1Shared pathway20%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
75%
Brain
58%
Liver
18%
Ovary
1%
Heart
0%
Gene Interaction Network
Click a node to explore
ILDR1MARVELD2RBM12BLDLRAD1SFT2D2TMED8CD163L1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q86SU0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.10LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.88 [0.71–1.10]
RankingsWhere ILDR1 stands among ~20K protein-coding genes
  • #12,999of 20,598
    Most Researched25
  • #1,684of 5,498
    Most Pathogenic Variants35
  • #11,280of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedILDR1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Analyses of the expression and prognosis of ILDR1 in human gastric cancer.
PMID: 36091962
Heliyon Β· 2022
1.00
2
ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells.
PMID: 25217574
Hum Mol Genet Β· 2015
0.90
3
Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature.
PMID: 29224747
Int J Pediatr Otorhinolaryngol Β· 2017
0.80
4
ILDR1 deficiency causes degeneration of cochlear outer hair cells and disrupts the structure of the organ of Corti: a mouse model for human DFNB42.
PMID: 25819842
Biol Open Β· 2015
0.70
5
Genetics of age-related hearing loss.
PMID: 31989664
J Neurosci Res Β· 2020
0.60