EDARADD (EDAR associated death domain)

2015-10-01  

Identity

HGNC
LOCATION
1q42.3
LOCUSID
ALIAS
ECTD11A,ECTD11B,ED3,EDA3
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
117800642001Gene defect in ectodermal dysplasia implicates a death domain adapter in development.68
209792332011Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.52
216266772011Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.33
118822932002Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice.16
202229212010Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.5
264406642016A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.4
229849942012A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population.3
300225382019First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia.0

Citation

Dessen P

EDARADD (EDAR associated death domain)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/55435/edaradd-(edar-associated-death-domain)