Identity
HGNC
LOCATION
2q13
LOCUSID
ALIAS
DL,ECTD10A,ECTD10B,ED1R,ED3,ED5,EDA-A1R,EDA1R,EDA3,HRM1
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: 10913
MIM: 604095
HGNC: 2895
Ensembl: ENSG00000135960
Variants:
dbSNP: 10913
ClinVar: 10913
TCGA: ENSG00000135960
COSMIC: EDAR
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000135960 | ENST00000258443 | Q9UNE0 |
| ENSG00000135960 | ENST00000376651 | Q9UNE0 |
| ENSG00000135960 | ENST00000409271 | Q9UNE0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36258277 | 2023 | Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity. | 0 |
| 36470092 | 2023 | A novel EDAR variant identified in non-syndromic tooth agenesis: Insights from molecular dynamics. | 1 |
| 37739945 | 2023 | Depletion of G9A attenuates imiquimod-induced psoriatic dermatitis via targeting EDAR-NF-κB signaling in keratinocyte. | 0 |
| 36258277 | 2023 | Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity. | 0 |
| 36470092 | 2023 | A novel EDAR variant identified in non-syndromic tooth agenesis: Insights from molecular dynamics. | 1 |
| 37739945 | 2023 | Depletion of G9A attenuates imiquimod-induced psoriatic dermatitis via targeting EDAR-NF-κB signaling in keratinocyte. | 0 |
| 34916592 | 2022 | Elevated EDAR signalling promotes mammary gland tumourigenesis with squamous metaplasia. | 6 |
| 34916592 | 2022 | Elevated EDAR signalling promotes mammary gland tumourigenesis with squamous metaplasia. | 6 |
| 33205897 | 2021 | Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis. | 8 |
| 33664401 | 2021 | The human EDAR 370V/A polymorphism affects tooth root morphology potentially through the modification of a reaction-diffusion system. | 1 |
| 33943035 | 2021 | A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family. | 6 |
| 34573371 | 2021 | Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations. | 5 |
| 34618839 | 2021 | Association of EDARV370A with breast density and metabolic syndrome in Latinos. | 3 |
| 33205897 | 2021 | Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis. | 8 |
| 33664401 | 2021 | The human EDAR 370V/A polymorphism affects tooth root morphology potentially through the modification of a reaction-diffusion system. | 1 |
Citation
Dessen P
EDAR (ectodysplasin A receptor)
Atlas Genet Cytogenet Oncol Haematol. 2015-10-01
Online version: http://atlasgeneticsoncology.org/gene/55426/
