ILDR1 (immunoglobulin like domain containing receptor 1)

2014-08-01  

Identity

HGNC
LOCATION
3q13.33
LOCUSID
ALIAS
DFNB42,ILDR1alpha,ILDR1alpha,ILDR1beta
FUSION GENES

Other Information

Locus ID:

NCBI: 286676
MIM: 609739
HGNC: 28741
Ensembl: ENSG00000145103

Variants:

dbSNP: 286676
ClinVar: 286676
TCGA: ENSG00000145103
COSMIC: ILDR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145103ENST00000273691Q86SU0
ENSG00000145103ENST00000344209Q86SU0
ENSG00000145103ENST00000393631Q86SU0
ENSG00000145103ENST00000642615Q86SU0

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
368141092023Imputation of SNPs associated with presbycusis through linkage disequilibrium analysis in the ILDR1 gene.0
368141092023Imputation of SNPs associated with presbycusis through linkage disequilibrium analysis in the ILDR1 gene.0
298495662018A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.3
298495662018A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.3
289458132017Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.4
292247472017Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature.7
289458132017Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.4
292247472017Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature.7
277640962016A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records.52
277640962016A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records.52
256682042015Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.12
264400882015Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.9
256682042015Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.12
264400882015Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.9
247688152014ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.11

Citation

Dessen P

ILDR1 (immunoglobulin like domain containing receptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54376/css/js/template.js