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Aliases for ILDR1 Gene

Aliases for ILDR1 Gene

  • Immunoglobulin Like Domain Containing Receptor 1 2 3
  • Immunoglobulin-Like Domain Containing Receptor 1 2 3 5
  • Immunoglobulin-Like Domain-Containing Receptor 1 Alpha 3
  • Immunoglobulin-Like Domain-Containing Receptor 1 Beta 3
  • Deafness, Autosomal Recessive 42 2
  • ILDR1alpha 3
  • ILDR1beta 3
  • DFNB42 3

External Ids for ILDR1 Gene

Previous HGNC Symbols for ILDR1 Gene

  • DFNB42

Previous GeneCards Identifiers for ILDR1 Gene

  • GC03M123188
  • GC03M121706
  • GC03M119079

Summaries for ILDR1 Gene

Entrez Gene Summary for ILDR1 Gene

  • This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for ILDR1 Gene

ILDR1 (Immunoglobulin Like Domain Containing Receptor 1) is a Protein Coding gene. Diseases associated with ILDR1 include Deafness, Autosomal Recessive 42 and Dfnb42 Nonsyndromic Hearing Loss And Deafness. GO annotations related to this gene include high-density lipoprotein particle receptor activity. An important paralog of this gene is ILDR2.

UniProtKB/Swiss-Prot for ILDR1 Gene

  • Putative membrane receptor.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ILDR1 Gene

Genomics for ILDR1 Gene

Regulatory Elements for ILDR1 Gene

Enhancers for ILDR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ILDR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ILDR1 Gene

121,987,323 bp from pter
122,060,516 bp from pter
73,194 bases
Minus strand

Genomic View for ILDR1 Gene

Genes around ILDR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ILDR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ILDR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ILDR1 Gene

Proteins for ILDR1 Gene

  • Protein details for ILDR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Immunoglobulin-like domain-containing receptor 1
    Protein Accession:
    Secondary Accessions:
    • Q6ZP61
    • Q7Z578

    Protein attributes for ILDR1 Gene

    546 amino acids
    Molecular mass:
    62815 Da
    Quaternary structure:
    • Homooligomer.

    Alternative splice isoforms for ILDR1 Gene

neXtProt entry for ILDR1 Gene

Proteomics data for ILDR1 Gene at MOPED

Post-translational modifications for ILDR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ILDR1 Gene

No data available for DME Specific Peptides for ILDR1 Gene

Domains & Families for ILDR1 Gene

Protein Domains for ILDR1 Gene

Suggested Antigen Peptide Sequences for ILDR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
  • Belongs to the immunoglobulin superfamily. LISCH7 family.
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
  • Belongs to the immunoglobulin superfamily. LISCH7 family.
genes like me logo Genes that share domains with ILDR1: view

No data available for Gene Families for ILDR1 Gene

Function for ILDR1 Gene

Molecular function for ILDR1 Gene

UniProtKB/Swiss-Prot Function:
Putative membrane receptor.
genes like me logo Genes that share phenotypes with ILDR1: view

Human Phenotype Ontology for ILDR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ILDR1 Gene

MGI Knock Outs for ILDR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ILDR1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for ILDR1 Gene

Localization for ILDR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ILDR1 Gene

Cell membrane; Single-pass type I membrane protein.
Isoform 5: Cytoplasm, cytosol.

Subcellular locations from

Jensen Localization Image for ILDR1 Gene COMPARTMENTS Subcellular localization image for ILDR1 gene
Compartment Confidence
plasma membrane 5
cytosol 3
golgi apparatus 2
endoplasmic reticulum 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ILDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ILDR1: view

Pathways & Interactions for ILDR1 Gene

SuperPathways for ILDR1 Gene

No Data Available

Interacting Proteins for ILDR1 Gene

Gene Ontology (GO) - Biological Process for ILDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090277 positive regulation of peptide hormone secretion IEA --
genes like me logo Genes that share ontologies with ILDR1: view

No data available for Pathways by source and SIGNOR curated interactions for ILDR1 Gene

Drugs & Compounds for ILDR1 Gene

No Compound Related Data Available

Transcripts for ILDR1 Gene

Unigene Clusters for ILDR1 Gene

Immunoglobulin-like domain containing receptor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ILDR1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
SP1: -
SP2: - -
SP3: - -
SP4: -
SP5: - - -

Relevant External Links for ILDR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ILDR1 Gene

mRNA expression in normal human tissues for ILDR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ILDR1 Gene

This gene is overexpressed in Colon - Transverse (x5.8), Pancreas (x4.6), and Kidney - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for ILDR1 Gene

This gene is overexpressed in Monocytes (65.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ILDR1 Gene

SOURCE GeneReport for Unigene cluster for ILDR1 Gene Hs.98484

mRNA Expression by UniProt/SwissProt for ILDR1 Gene

Tissue specificity: Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver.
genes like me logo Genes that share expression patterns with ILDR1: view

Protein tissue co-expression partners for ILDR1 Gene

Primer Products

Orthologs for ILDR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ILDR1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ILDR1 35
  • 87.22 (n)
  • 84.26 (a)
ILDR1 36
  • 80 (a)
(Canis familiaris)
Mammalia ILDR1 35
  • 82.86 (n)
  • 79.92 (a)
ILDR1 36
  • 77 (a)
(Mus musculus)
Mammalia Ildr1 35
  • 83.78 (n)
  • 82.13 (a)
Ildr1 16
Ildr1 36
  • 76 (a)
(Pan troglodytes)
Mammalia ILDR1 35
  • 99.57 (n)
  • 99.63 (a)
ILDR1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Ildr1 35
  • 83.81 (n)
  • 83.49 (a)
(Monodelphis domestica)
Mammalia ILDR1 36
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia ILDR1 36
  • 48 (a)
(Gallus gallus)
Aves ILDR1 35
  • 63.66 (n)
  • 59.5 (a)
ILDR1 36
  • 53 (a)
(Anolis carolinensis)
Reptilia ILDR1 36
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486057 35
  • 61.94 (n)
  • 60.39 (a)
(Danio rerio)
Actinopterygii ildr1a 35
  • 64.5 (n)
  • 59.59 (a)
zgc64227 35
ildr1a 36
  • 41 (a)
ildr1b 36
  • 37 (a)
Species with no ortholog for ILDR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ILDR1 Gene

Gene Tree for ILDR1 (if available)
Gene Tree for ILDR1 (if available)

Paralogs for ILDR1 Gene

Paralogs for ILDR1 Gene

genes like me logo Genes that share paralogs with ILDR1: view

Variants for ILDR1 Gene

Sequence variations from dbSNP and Humsavar for ILDR1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_065352 Deafness, autosomal recessive, 42 (DFNB42)
VAR_065353 -
VAR_065354 -
rs1125303 -- 122,032,569(-) ctcct(C/T)ttcaa intron-variant
rs2332032 -- 122,003,148(+) CAGTT(C/T)CAGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ILDR1 Gene

Variant ID Type Subtype PubMed ID
esv33139 CNV Loss 17666407
nsv237246 CNV Loss 16902084

Variation tolerance for ILDR1 Gene

Residual Variation Intolerance Score: 80% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.90; 87.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ILDR1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ILDR1 Gene

Disorders for ILDR1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ILDR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 42
  • deafness, autosomal recessive, 42
dfnb42 nonsyndromic hearing loss and deafness
  • deafness, autosomal recessive 42
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards
Search ILDR1 in MalaCards View complete list of genes associated with diseases


  • Deafness, autosomal recessive, 42 (DFNB42) [MIM:609646]: A prelingual, non-progressive form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:21255762}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ILDR1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ILDR1: view

No data available for Genatlas for ILDR1 Gene

Publications for ILDR1 Gene

  1. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. (PMID: 21255762) Borck G. … Kubisch C. (Am. J. Hum. Genet. 2011) 2 3 4 67
  2. A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. (PMID: 15641023) Aslam M. … Leal S.M. (Am. J. Med. Genet. A 2005) 2 3
  3. Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain. (PMID: 25668204) Kim N.K. … Choi B.Y. (PLoS ONE 2015) 3
  4. Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families. (PMID: 26440088) Mehrjoo Z. … Najmabadi H. (J. Genet. 2015) 3
  5. ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population. (PMID: 24768815) Ramzan K. … Imtiaz F. (Eur J Med Genet 2014) 3

Products for ILDR1 Gene

Sources for ILDR1 Gene