Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ILDR1 Gene

Aliases for ILDR1 Gene

  • 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
  • Immunoglobulin-Like Domain Containing Receptor 1 2
  • Immunoglobulin-Like Domain-Containing Receptor 1 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 LSR.

UniProtKB/Swiss-Prot for ILDR1 Gene

  • Putative membrane receptor.

Additional gene information for ILDR1 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H122002 1.5 FANTOM5 Ensembl ENCODE 13.2 +56.5 56454 2.9 BMI1 BATF EGR1 ZNF207 ATF7 ETV6 RUNX3 CREM IKZF2 SMARCA5 IQCB1 SLC15A2 CD86 ENSG00000202388 ILDR1 CSTA EAF2 HCLS1 LOC101927010
GH03H121997 1.5 FANTOM5 Ensembl ENCODE 11.6 +62.0 62016 2.2 TBL1XR1 ZBTB21 JUN BMI1 EBF1 BATF RELA FOSL1 ZFHX2 POLR2A SLC15A2 CD86 EAF2 ENSG00000202388 ILDR1 IQCB1 CSTA HCLS1 LOC101927010
GH03H122091 1.3 Ensembl ENCODE dbSUPER 12.1 -31.6 -31648 1.9 CTCF TBL1XR1 EBF1 BATF RAD21 POLR2A EED SMC3 ZNF143 FOS ILDR1 ENSG00000202388 CD86 CASR
GH03H122081 1.1 FANTOM5 dbSUPER 11.4 -21.2 -21212 0.2 PKNOX1 BACH1 BATF RELA EED ATF7 ETV6 RUNX3 IKZF2 CREM ILDR1 ENSG00000202388 CSTA CCDC58 FAM162A CD86 EAF2 CASR
GH03H122093 0.8 dbSUPER 12.1 -34.1 -34070 2 CTCF PKNOX1 TBL1XR1 EBF1 BATF RELA EED ATF7 ETV6 RUNX3 ILDR1 ENSG00000202388 CASR
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ILDR1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ILDR1 Gene

Genomic Locations for ILDR1 Gene
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

Post-translational modifications for ILDR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ILDR1 Gene

Domains & Families for ILDR1 Gene

Gene Families for ILDR1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

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



  • Belongs to the immunoglobulin superfamily. LISCH7 family.
  • Belongs to the immunoglobulin superfamily. LISCH7 family.
genes like me logo Genes that share domains with ILDR1: view

Function for ILDR1 Gene

Molecular function for ILDR1 Gene

UniProtKB/Swiss-Prot Function:
Putative membrane receptor.

Phenotypes From GWAS Catalog for ILDR1 Gene

Gene Ontology (GO) - Molecular Function for ILDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070506 high-density lipoprotein particle receptor activity IEA --
genes like me logo Genes that share ontologies with ILDR1: view
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ILDR1 gene
Compartment Confidence
plasma membrane 5
cytosol 3
golgi apparatus 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ILDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0061689 tricellular tight junction IEA --
genes like me logo Genes that share ontologies with ILDR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ILDR1 Gene

Pathways & Interactions for ILDR1 Gene

SuperPathways for ILDR1 Gene

No Data Available

Interacting Proteins for ILDR1 Gene

Selected Interacting proteins: Q86SU0-ILDR1_HUMAN for ILDR1 Gene via IID

Gene Ontology (GO) - Biological Process for ILDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis IEA --
GO:0090277 positive regulation of peptide hormone secretion IEA --
GO:1990830 cellular response to leukemia inhibitory factor 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Protein tissue co-expression partners for ILDR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ILDR1 Gene:


SOURCE GeneReport for Unigene cluster for ILDR1 Gene:


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.

Evidence on tissue expression from TISSUES for ILDR1 Gene

  • Kidney(4.1)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ILDR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ILDR1: view

Orthologs for ILDR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ILDR1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ILDR1 34 33
  • 99.57 (n)
(Bos Taurus)
Mammalia ILDR1 34 33
  • 87.22 (n)
(Rattus norvegicus)
Mammalia Ildr1 33
  • 83.81 (n)
(Mus musculus)
Mammalia Ildr1 33 16 34
  • 83.78 (n)
(Canis familiaris)
Mammalia ILDR1 33 34
  • 82.86 (n)
(Monodelphis domestica)
Mammalia ILDR1 34
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia ILDR1 34
  • 48 (a)
(Gallus gallus)
Aves ILDR1 33 34
  • 63.66 (n)
(Anolis carolinensis)
Reptilia ILDR1 34
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486057 33
  • 61.94 (n)
(Danio rerio)
Actinopterygii ildr1a 33 34
  • 64.5 (n)
ildr1b 34
  • 37 (a)
zgc64227 33
Species where no ortholog for ILDR1 was found in the sources mined by GeneCards:
  • 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
rs372564314 Deafness, autosomal recessive, 42 (DFNB42) [MIM:609646] 121,993,391(+) TCTCC(A/C/T)GGGGG reference, missense
rs771818841 Deafness, autosomal recessive, 42 (DFNB42) [MIM:609646] 122,005,333(+) CTTCC(C/T)GCTGG reference, missense, utr-variant-5-prime
rs387907015 Pathogenic 121,993,614(-) ACCAG(G/T)AGCTC reference, stop-gained
rs387907016 Pathogenic 122,022,075(-) GGCAT(A/G)GCATG intron-variant, reference, missense
rs387907017 Pathogenic 122,001,371(-) GTCCT(C/T)AGTAT intron-variant, reference, stop-gained

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

Variant ID Type Subtype PubMed ID
nsv237246 CNV deletion 16902084
esv3597601 CNV loss 21293372
esv3568989 CNV loss 25503493
esv3568988 CNV loss 25503493
esv33139 CNV loss 17666407

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for ILDR1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 42
  • autosomal recessive nonsyndromic deafness 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
deafness, autosomal recessive 49
  • autosomal recessive nonsyndromic deafness 49
deafness, autosomal recessive
- 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 (American journal of human genetics 2011) 2 3 4 60
  2. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PMID: 22190364) Patsopoulos NA … de Bakker PI (Annals of neurology 2011) 3 45 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. (PMID: 15641023) Aslam M … Leal SM (American journal of medical genetics. Part A 2005) 2 3 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for ILDR1 Gene

Sources for ILDR1 Gene

Loading form....