EDARADD (EDAR associated death domain)

2015-10-01  

Identity

HGNC
EDARADD
LOCATION
1q42.3
LOCUSID
128178
ALIAS
ECTD11A,ECTD11B,ED3,EDA3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 128178
MIM: 606603
HGNC: 14341
Ensembl: ENSG00000186197

Variants:

dbSNP: 128178
ClinVar: 128178
TCGA: ENSG00000186197
COSMIC: EDARADD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186197ENST00000334232Q8WWZ3
ENSG00000186197ENST00000359362Q8WWZ3
ENSG00000186197ENST00000439430B1AL55
ENSG00000186197ENST00000637660A0A1B0GV26
ENSG00000186197ENST00000642595A0A2R8Y5E0

Expression (GTEx)

0
1
2
3
4
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
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
376735912023A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism.0
378382802023EDARADD promotes colon cancer progression by suppressing E3 ligase Trim21-mediated ubiquitination and degradation of Snail.2
376735912023A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism.0
378382802023EDARADD promotes colon cancer progression by suppressing E3 ligase Trim21-mediated ubiquitination and degradation of Snail.2
356370632022EDARADD silencing suppresses the proliferation and migration of bladder cancer cells.1
356370632022EDARADD silencing suppresses the proliferation and migration of bladder cancer cells.1
342192612021Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.5
345733712021Gene 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
342192612021Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.5
345733712021Gene 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
321884932020Alterations in the methylome of the stromal tumour microenvironment signal the presence and severity of prostate cancer.13
328198902020Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.3
321884932020Alterations in the methylome of the stromal tumour microenvironment signal the presence and severity of prostate cancer.13
328198902020Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.3
300225382019First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia.2

Citation

Dessen P

EDARADD (EDAR associated death domain)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/55435