Identity
HGNC
LOCATION
3q13.33
LOCUSID
ALIAS
DFNB42,ILDR1alpha,ILDR1alpha,ILDR1beta
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 286676
MIM: 609739
HGNC: 28741
Ensembl: ENSG00000145103
Variants:
dbSNP: 286676
ClinVar: 286676
TCGA: ENSG00000145103
COSMIC: ILDR1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000145103 | ENST00000273691 | Q86SU0 |
| ENSG00000145103 | ENST00000344209 | Q86SU0 |
| ENSG00000145103 | ENST00000393631 | Q86SU0 |
| ENSG00000145103 | ENST00000642615 | Q86SU0 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36814109 | 2023 | Imputation of SNPs associated with presbycusis through linkage disequilibrium analysis in the ILDR1 gene. | 0 |
| 36814109 | 2023 | Imputation of SNPs associated with presbycusis through linkage disequilibrium analysis in the ILDR1 gene. | 0 |
| 29849566 | 2018 | A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families. | 3 |
| 29849566 | 2018 | A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families. | 3 |
| 28945813 | 2017 | Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation. | 4 |
| 29224747 | 2017 | Next-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 |
| 28945813 | 2017 | Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation. | 4 |
| 29224747 | 2017 | Next-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 |
| 27764096 | 2016 | A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records. | 52 |
| 27764096 | 2016 | A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records. | 52 |
| 25668204 | 2015 | Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain. | 12 |
| 26440088 | 2015 | Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families. | 9 |
| 25668204 | 2015 | Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain. | 12 |
| 26440088 | 2015 | Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families. | 9 |
| 24768815 | 2014 | ILDR1: 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/ildr1-(immunoglobulin-like-domain-containing-receptor-1)
