Property Summary

NCBI Gene PubMed Count 14
PubMed Score 22.08
PubTator Score 21.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
medulloblastoma, large-cell 1.400 7.7e-05
interstitial cystitis -2.100 2.4e-05
adult high grade glioma 1.100 3.2e-03
gastric carcinoma -1.100 4.5e-03
invasive ductal carcinoma 1.300 9.6e-03

Protein-protein Interaction (2)

Gene RIF (6)

PMID Text
22984994 The study data demonstrate an association between SNP rs3916983 of the EDARADD gene and non-syndromic hypodontia in Chinese Han individuals.
21626677 a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia, mutations were identified in the EDARADD), AXIN2, MSX1, and PAX9 genes
20979233 The phenotypes associated with EDA1, EDAR, and EDARADD mutations were indistinguishable
20222921 Results demonstrate that EDARADD mutations are not a frequent cause of hypohidrotic ectodermal dysplasia, while mutations in TRAF6, TAB2 and TAK1 may not be implicated in this disease.
11882293 crinkled binds EDAR through a homotypic death domain interaction and mediates engagement of the NF-kappaB pathway, possibly by recruiting TRAF2 to the receptor-signaling complex
11780064 interacts with the death domain of Edar and links the receptor to downstream signalling pathways

AA Sequence

MGLRTTKQMGRGTKAPGHQEDHMVKEPVEDTDPSTLSFNMSDKYPIQDTELPKAEECDTITLNCPRNSDM      1 - 70
KNQGEENGFPDSTGDPLPEISKDNSCKENCTCSSCLLRAPTISDLLNDQDLLDVIRIKLDPCHPTVKNWR     71 - 140
NFASKWGMSYDELCFLEQRPQSPTLEFLLRNSQRTVGQLMELCRLYHRADVEKVLRRWVDEEWPKRERGD    141 - 210
PSRHF                                                                     211 - 215
//

Text Mined References (16)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
22984994 2012 A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population.
21626677 2011 Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.
20979233 2011 Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
20222921 2010 Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.
18231121 2008 Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
17354266 2007 Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11997580 2002 Death receptor signaling giving life to ectodermal organs.
11882293 2002 Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice.
11780064 2001 Gene defect in ectodermal dysplasia implicates a death domain adapter in development.
11035039 2001 The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A.
9245989 1997 Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.