ILDR1 (immunoglobulin like domain containing receptor 1)

2014-08-01 Affiliation

Identity

HGNC

ILDR1

LOCATION

3q13.33

LOCUSID

286676

ALIAS

DFNB42,ILDR1alpha,ILDR1alpha,ILDR1beta

FUSION GENES

Show Gene Fusions

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/css/gene-fusions/?id=54376