EDAR (ectodysplasin A receptor)

2015-10-01  

Identity

HGNC
EDAR
LOCATION
2q13
LOCUSID
10913
ALIAS
DL,ECTD10A,ECTD10B,ED1R,ED3,ED5,EDA-A1R,EDA1R,EDA3,HRM1

Other Information

Locus ID:

NCBI: 10913
MIM: 604095
HGNC: 2895
Ensembl: ENSG00000135960

Variants:

dbSNP: 10913
ClinVar: 10913
TCGA: ENSG00000135960
COSMIC: EDAR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135960ENST00000258443Q9UNE0
ENSG00000135960ENST00000376651Q9UNE0
ENSG00000135960ENST00000409271Q9UNE0

Expression (GTEx)

0
1
2
3
4
5
6
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

PathwaySourceExternal ID
Cytokine-cytokine receptor interactionKEGGko04060
Cytokine-cytokine receptor interactionKEGGhsa04060
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
TNFR2 non-canonical NF-kB pathwayREACTOMER-HSA-5668541
TNFs bind their physiological receptorsREACTOMER-HSA-5669034

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
234152202013Modeling recent human evolution in mice by expression of a selected EDAR variant.69
180657792008A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness.56
209792332011Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.52
198048502009A common variation in EDAR is a genetic determinant of shovel-shaped incisors.33
185613272008Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.32
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
187045002008A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia.25
164353072006Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.16
182311212008Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.12

Citation

Dessen P

EDAR (ectodysplasin A receptor)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/55426/edar