EDA2R (ectodysplasin A2 receptor)

2003-06-01  

Identity

HGNC
EDA2R
LOCATION
Xq12
LOCUSID
60401
ALIAS
EDA-A2R,EDAA2R,TNFRSF27,XEDAR

Other Information

Locus ID:

NCBI: 60401
MIM: 300276
HGNC: 17756
Ensembl: ENSG00000131080

Variants:

dbSNP: 60401
ClinVar: 60401
TCGA: ENSG00000131080
COSMIC: EDA2R

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131080ENST00000253392Q9HAV5
ENSG00000131080ENST00000374719Q9HAV5
ENSG00000131080ENST00000396050Q9HAV5
ENSG00000131080ENST00000451436Q9HAV5

Expression (GTEx)

0
5
10
15
20
25
30
35
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

References

Pubmed IDYearTitleCitations
195433212009XEDAR as a putative colorectal tumor suppressor that mediates p53-regulated anoikis pathway.24
183857632008EDA2R is associated with androgenetic alopecia.21
183857632008EDA2R is associated with androgenetic alopecia.21
122709372002Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor.13
205016442010Crosstalk of EDA-A2/XEDAR in the p53 signaling pathway.12
193734882009Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness.10
270604482016Differential Expression between Human Dermal Papilla Cells from Balding and Non-Balding Scalps Reveals New Candidate Genes for Androgenetic Alopecia.9
152803562004Induction of apoptosis by X-linked ectodermal dysplasia receptor via a caspase 8-dependent mechanism.7
266593832017X-linked ectodermal dysplasia receptor (XEDAR) gene silencing prevents caspase-3-mediated apoptosis in Sjögren's syndrome.7
217240722011Analysis of genetic polymorphisms in skeletal Class I crowding.6

Citation

Dessen P

EDA2R (ectodysplasin A2 receptor)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/42843/eda2r