ILDR1 - immunoglobulin like domain containing receptor 1 Gene

Also Known as DFNB42; ILDR1beta; ILDR1alpha; ILDR1alpha'

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 286676

About ILDR1

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:121,987,323-122,061,655 (from NCBI)

This gene has 5 transcripts (splice variants), 256 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in colon (RPKM 3.8), prostate (RPKM 3.2) and 17 other tissues.

Summary

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]

ILDR1 Products (3)

mRNA	Protein	Name
NM_001199799.2	NP_001186728.1	immunoglobulin-like domain-containing receptor 1 isoform 1 precursor
NM_001199800.2	NP_001186729.1	immunoglobulin-like domain-containing receptor 1 isoform 3 precursor
NM_175924.4	NP_787120.1	immunoglobulin-like domain-containing receptor 1 isoform 2 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IDA IDA: Inferred from direct assay	15381095	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23239027	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytosol	IDA IDA: Inferred from direct assay	15381095	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15381095	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	15381095	GOA
located in tight junction	IDA IDA: Inferred from direct assay	23239027	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ILDR1 Protein Structure

LSR

0
100
200
300
400
500
546 a.a.

Protein Preferred Names	Protein Names
immunoglobulin-like domain-containing receptor 1	angulin-2

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 42	DFNB42 Autosomal Recessive Nonsyndromic Deafness 42 Autosomal Recessive Deafness 42 Deafness, Autosomal Recessive, 42 Congenital Neurosensory Deafness Autosomal Recessive 42 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 42 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 42 Deafness, Autosomal Recessive, Type 42
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 49	DFNB49 Autosomal Recessive Nonsyndromic Deafness 49 Autosomal Recessive Deafness 49 Deafness, Autosomal Recessive, 49 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49 Deafness, Autosomal Recessive, Type 49
Deafness, Autosomal Dominant 58	DFNA58 Autosomal Dominant Nonsyndromic Deafness 58 Autosomal Dominant Deafness 58
Deafness, Autosomal Recessive 61	DFNB61 Autosomal Recessive Nonsyndromic Deafness 61 Autosomal Recessive Deafness 61 Deafness, Autosomal Recessive, 61 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61 Deafness, Autosomal Recessive, Type 61
Deafness, Autosomal Recessive 44	DFNB44 Autosomal Recessive Nonsyndromic Deafness 44 Autosomal Recessive Deafness 44 Deafness, Autosomal Recessive, 44 Deafness, Autosomal Recessive, Type 44
Deafness, Autosomal Recessive 29	DFNB29 Autosomal Recessive Nonsyndromic Deafness 29 Autosomal Recessive Deafness 29 Deafness, Autosomal Recessive, 29 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 29 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 29 Deafness, Autosomal Recessive, Type 29
Deafness, Autosomal Dominant 3a	DFNA3A Autosomal Dominant Nonsyndromic Deafness 3a Autosomal Dominant Deafness 3a Deafness, Autosomal Dominant, 3a Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a Deafness, Autosomal Dominant, Type 3a
Deafness, Autosomal Dominant 4b	DFNA4B Autosomal Dominant Nonsyndromic Deafness 4b Autosomal Dominant Deafness 4b Deafness, Autosomal Dominant, 4b Deafness, Autosomal Dominant, Type 4b
Deafness, Autosomal Dominant 20	DFNA20 Dfna26 Deafness, Autosomal Dominant 20/26 Autosomal Dominant Nonsyndromic Deafness 20 Autosomal Dominant Deafness 20 Deafness, Autosomal Dominant, 20 Deafness Autosomal Dominant 26 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 20 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 20 Deafness, Autosomal Dominant, Type 20/26
Deafness, Autosomal Recessive 67	DFNB67 Autosomal Recessive Nonsyndromic Deafness 67 Autosomal Recessive Deafness 67 Deafness, Autosomal Recessive, 67 Deafness, Autosomal Recessive, Type 67
Deafness, Autosomal Recessive 24	DFNB24 Deafness, Autosomal Recessive, 24 Autosomal Recessive Nonsyndromic Deafness 24 Autosomal Recessive Deafness 24 Deafness, Autosomal Recessive, Type 24
Deafness, Autosomal Recessive 97	DFNB97 Autosomal Recessive Nonsyndromic Deafness 97 Autosomal Recessive Deafness 97 Deafness, Autosomal Recessive, 97 Deafness, Autosomal Recessive, Type 97
3-Methylglutaconic Aciduria, Type I	3-Methylglutaconyl-Coa Hydratase Deficiency 3-Methylglutaconic Aciduria Type 1 Mga1 MGCA1 3mg-Coa Hydratase Deficiency Mga Type I Mga, Type I 3-Mg-Coa-Hydratase Deficiency 3 Methylglutaconyl Coa Hydratase Deficiency 3-Methylglutaconic Aciduria Type I 3 Alpha Methylglutaconic Aciduria Type I 3 Methylglutaconic Aciduria Type 1 3-Mgca Type I 3mg Coa Hydratase Deficiency Auh Defect Primary 3-Methylglutaconic Aciduria 3-Methylglutaconic Aciduria 1 3-Alpha-Methylglutaconic Aciduria Type 1 3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency 3-@Methylglutaconic Aciduria, Type I Megaloblastic Anemia Due To Inborn Errors Of Metabolism
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Deafness, Autosomal Recessive 12	DFNB12 Deafness, Autosomal Recessive 12, Modifier Of Autosomal Recessive Nonsyndromic Deafness 12 Autosomal Recessive Deafness 12 Deafness, Autosomal Recessive, 12 Congenital Neurosensory Deafness Autosomal Recessive 12 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 Deafness, Autosomal Recessive, Type 12
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06783	ILDR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ILDR1	VGNC	VGNC:73672
Canis familiaris	ILDR1	VGNC	VGNC:41997
Felis catus	ILDR1	VGNC	VGNC:62915
Bos taurus	ILDR1	VGNC	VGNC:30173
Rattus norvegicus	ILDR1	RGD	RGD:1307792
Mus musculus	ILDR1	MGD	MGI:2146574