Property Summary

NCBI Gene PubMed Count 45
PubMed Score 151.11
PubTator Score 101.41

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
lung cancer 1.700 8.6e-04
colon cancer 1.800 4.2e-02
interstitial cystitis -1.900 1.3e-05
psoriasis -1.400 1.7e-37

 GWAS Trait (1)

Protein-protein Interaction (1)

Gene RIF (28)

PMID Text
26603699 Partial least square path model confirms EDARV370A systematically affect these weakly related ectodermal-derived characteristics, suggesting the pleiotropic effect of EDARV370A mainly plays roles in early embryo development
26336973 Individuals with a c.1072C > T mutation in the EDAR-gene displayed more hair shaft deformations confirming the role of EDAR for human hair follicle development and postnatal hair follicle cycling.
26105758 Four traits of ear pinna anatomic variation are associated with a functional variant in the EDAR gene, a key regulator of embryonic skin appendage development.
24884697 Individuals with a c.1072C > T mutation in the EDAR-gene displayed a typical pattern of congenitally missing teeth in the frontal area with functional consequences.
24752358 Confirmed that EDARV370A, a variant that first originated in East Asia about 30000 years ago, played an important role in incisor shoveling in East Asia. This suggests that incisor shoveling in modern East Asians appeared after the late Pleistocene.
24641098 we have identi fi ed a novel frameshift mutation in an Italian family with autosomal dominant hypohidrotic ectodermal dysplasia resulting in a mild clinical phenotype.
23415220 Study generated a knockin mouse model and found that, as in humans, hair thickness is increased in EDAR370A mice; new biological targets affected by the mutation were identified, including mammary and eccrine glands. Building on these results EDAR370A was found to be associated with an increased number of active eccrine glands in the Han Chinese.
23210707 Using whole-exome sequencing we describe a novel homozygous missense mutation in EDAR causing autosomal recessive HED associated with palmoplantar hyperkeratosis and the absence of breasts.
22032522 This is the first report of a founder EDAR mutation and of a significantly high frequency of autosomal recessive HED.
21771270 screening of all the 12 exons and splice junctions of gene EDAR revealed a novel missense mutation (c.1163T>C; p.Ile388Thr) in family A and a novel insertion mutation (c.1014insA; p.V339SfsX6) in family B.
20979233 WNT10A and EDAR were each responsible for 16% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
20236127 Data show that 25 different mutations on EDA and EDAR genes were detected in HED patients.
20199431 DNA sequence analysis of EDAR gene in a Pakistani family, demonstrating autosomal recessive form of hypohidrotic ectodermal dysplasia, identified a novel homozygous mutation affecting splice donor site of exon 5 [IVS5+1G > or = C] of the gene
20033817 a novel compound heterozygous mutation [c.52-2A>G; c.212G>A (p.Cys71Tyr)]; significance of the EDAR signalling pathway in the ectodermal morphogenesis.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19804850 an EDAR variant is a genetic determinant of shovel-shaped incisors
19551394 Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.
19438931 results expand the allelic series for mutations underlying hypohidrotic ectodermal dysplasia
18704500 EDAR is the genetic determinant of hair thickness as well as a strong contributor to hair fiber thickness variation among Asian populations.
18561327 Study shows that the derived EDAR370A common in East Asia has a more potent signaling output than the ancestral EDAR370 V; shows that elevation of Edar activity in transgenic mice converts their hair phenotype to the typical East Asian morphology.
18231121 Patients with homozygous or compound heterozygous mutations in the EDAR gene have a more severe phenotype of hypohidrotic ectodermal dysplasia than those with a heterozygous missense, nonsense or frame-shift mutation
18065779 EDAR is a major genetic determinant of Asian hair thickness and the 1540C allele spread through Asian populations due to recent positive selection
17970812 study reports the molecular analyses of four patients from India with hypohidrotic ectodermal dysplasia, three who harbour novel mutations, two in the EDA gene and one in the EDAR gene
17501952 novel deletion mutation in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia
16435307 EDAR mutations account for one-quarter of non-ED1-related hypohidrotic ectodermal dyspl
16423472 isoforms of EDA-A5 and A5',activated NF-kappaB through receptors EDAR and XEDAR

AA Sequence

MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGENEYYNQTTGLCQECPPCGPGEEPYLSCGYGTKDEDYG      1 - 70
CVPCPAEKFSKGGYQICRRHKDCEGFFRATVLTPGDMENDAECGPCLPGYYMLENRPRNIYGMVCYSCLL     71 - 140
APPNTKECVGATSGASANFPGTSGSSTLSPFQHAHKELSGQGHLATALIIAMSTIFIMAIAIVLIIMFYI    141 - 210
LKTKPSAPACCTSHPGKSVEAQVSKDEEKKEAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSENEQLL    211 - 280
SRSVDSDEEPAPDKQGSPELCLLSLVHLAREKSATSNKSAGIQSRRKKILDVYANVCGVVEGLSPTELPF    281 - 350
DCLEKTSRMLSSTYNSEKAVVKTWRHLAESFGLKRDEIGGMTDGMQLFDRISTAGYSIPELLTKLVQIER    351 - 420
LDAVESLCADILEWAGVVPPASQPHAAS                                              421 - 448
//

Text Mined References (48)

PMID Year Title
27144394 2016 Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.
26603699 2016 EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects.
26336973 2015 Hair shaft structures in EDAR induced ectodermal dysplasia.
26105758 2015 A genome-wide association study identifies multiple loci for variation in human ear morphology.
24884697 2014 EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C?>?T mutation.
24752358 2014 Characteristics of dental morphology in the Xinjiang Uyghurs and correlation with the EDARV370A variant.
24641098 2015 Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.
23415220 2013 Modeling recent human evolution in mice by expression of a selected EDAR variant.
23210707 2013 Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis.
22032522 2012 A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
21771270 2011 Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.
20979233 2011 Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20236127 2010 X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
20199431 A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.
20033817 2010 A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19804850 2009 A common variation in EDAR is a genetic determinant of shovel-shaped incisors.
19551394 2009 Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.
19438931 2009 Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.
18704500 2008 A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia.
18561327 2008 Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.
18231121 2008 Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
18065779 2008 A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness.
17970812 2008 Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.
17501952 2007 A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia.
16435307 2006 Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.
16423472 2006 Repertoire of mouse ectodysplasin-A (EDA-A) isoforms.
16029325 2005 Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15373768 2004 A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.
15340161 2004 Signal peptide prediction based on analysis of experimentally verified cleavage sites.
14729942 2004 Identification of phosphoproteins and their phosphorylation sites in the WEHI-231 B lymphoma cell line.
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.
12270937 2002 Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor.
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.
11570810 2001 Signaling and subcellular localization of the TNF receptor Edar.
11309369 2001 Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.
11039935 2000 Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors.
11035039 2001 The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A.
10431241 1999 Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
9545409 1998 A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13.
9375732 1997 Autosomal dominant hypohidrotic ectodermal dysplasia in a large family.