EDAR (ectodysplasin A receptor)

2015-10-01 Affiliation

Identity

HGNC

EDAR

LOCATION

2q13

LOCUSID

10913

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)

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

Pathways

Pathway	Source	External ID
Cytokine-cytokine receptor interaction	KEGG	ko04060
Cytokine-cytokine receptor interaction	KEGG	hsa04060
Immune System	REACTOME	R-HSA-168256
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
TNFR2 non-canonical NF-kB pathway	REACTOME	R-HSA-5668541
TNFs bind their physiological receptors	REACTOME	R-HSA-5669034

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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