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Gene

ILDR1

immunoglobulin like domain containing receptor 1

Summary

Cytogenetic location
3q13.33
Coordinates
Chromosome 3: 121,987,323–122,022,247 (GRCh38)
Exons
8 exons across 34.9 kb
Protein
546 amino acids
Also known as
MGC50831
Previous symbols
DFNB42
MANE Select transcript
ENST00000344209.10NM_001199799.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Hearing Loss and Deafness

      • Nonsyndromic Genetic Hearing Loss

        One of 97 genes linked to it

        Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

        • ClinGen rates the link definitive
        • 4 GenCC submitters rate it definitive or strong
        What knowing changes

        Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

    How ILDR1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 3, with a bracket where ILDR1 sits. ILDR1 and 15 genes near it on chromosome 3, from 121,504,785 to 122,504,784.Chromosome 33q13.33p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29121.6 Mb121.8 Mb122 Mb122.2 Mb122.4 MbPOLQ: 121,431,419–121,546,007, reverse strandPOLQARGFX: 121,567,949–121,590,622, forward strandARGFXFBXO40: 121,592,886–121,630,434, forward strandFBXO40HCLS1: 121,631,399–121,660,927, reverse strandHCLS1GOLGB1: 121,663,189–121,749,966, reverse strandGOLGB1IQCB1: 121,769,398–121,835,093, reverse strandIQCB1EAF2: 121,835,164–121,888,073, forward strandEAF2SLC15A2: 121,894,355–121,944,188, forward strandSLC15A2ILDR1: 121,987,323–122,022,247, reverse strandILDR1CD86: 122,055,356–122,121,557, forward strandCD86CASR: 122,183,665–122,291,629, forward strandCASRCSTA: 122,325,238–122,359,856, forward strandCSTAMIX23: 122,338,391–122,383,276, reverse strandMIX23FAM162A: 122,384,161–122,412,334, forward strandFAM162AWDR5B: 122,411,846–122,416,464, reverse strandWDR5BKPNA1: 122,421,902–122,514,955, reverse strandKPNA1Diagram of ILDR1: 8 exons on the reverse strand of chromosome 3Exon 7: 7 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 3: 4 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 1 known disease-causing siteExon 8: 121,987,323–121,988,408, 1,086 basesExon 7: 121,993,150–121,993,970, 821 basesExon 6: 121,994,182–121,994,313, 132 basesExon 5: 122,001,308–122,001,454, 147 basesExon 4: 122,001,745–122,001,864, 120 basesExon 3: 122,005,244–122,005,393, 150 basesExon 2: 122,006,991–122,007,161, 171 basesExon 1: 122,022,020–122,022,247, 228 bases864215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 2.9 kb of the gene's 34.9 kb; 1,641 of those bases code for the protein.

    How a genome test reads ILDR1

    20

    positions in ILDR1 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 34.9 kb of ILDR1, introns included, not only the 2.9 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). ILDR1 gene: immunoglobulin like domain containing receptor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ildr1

    Vancouver

    Dante Labs. ILDR1 gene: immunoglobulin like domain containing receptor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ildr1

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