Property Summary

NCBI Gene PubMed Count 45
Grant Count 42
R01 Count 30
Funding $4,052,236.08
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 0.001
colon cancer 1.800 0.042
interstitial cystitis -1.900 0.000
psoriasis -1.400 0.000

 GWAS Trait (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.
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AA Sequence

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