1. Gene
  2. ILDR1 - immunoglobulin like domain containing receptor 1 Gene

ILDR1 - immunoglobulin like domain containing receptor 1 Gene

Homo sapiens

Also known as DFNB42; ILDR1beta; ILDR1alpha; ILDR1alpha'

Gene ID: 286676 | Gene type: protein coding

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

ILDR1 Protein Structure

LSR

LSR: Lipolysis stimulated receptor (LSR) (167 - 215)

  • 0
  • 100
  • 200
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  • 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

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