Entity Details

Primary name ILDR1
Entity type gene
Source Source Link

Details

PrimaryID286676
RefseqGeneNG_031870
SymbolILDR1
Nameimmunoglobulin like domain containing receptor 1
Chromosome3
Location3q13.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-12-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsILDR1_HUMAN

GO terms

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GOName
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0032991 protein-containing complex
GO:0042802 identical protein binding
GO:0061689 tricellular tight junction
GO:0070506 high-density lipoprotein particle receptor activity
GO:0090277 positive regulation of peptide hormone secretion
GO:1990830 cellular response to leukemia inhibitory factor

Diseases

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Disease IDSourceNameDescription
609646 OMIMDeafness, autosomal recessive, 42 (DFNB42)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
ILDR1WWP1BioGRID, IntAct28514442 details
ILDR1NEDD4LBioGRID, IntAct28514442 details
ILDR1ITCHBioGRID, IntAct28514442 details
ILDR1NEDD4BioGRID, IntAct28514442 details