Property Summary

NCBI Gene PubMed Count 90
Grant Count 74
R01 Count 46
Funding $8,286,853.23
PubMed Score 1281.35
PubTator Score 1162.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 1.300 0.000
psoriasis -1.600 0.000

Synonym

Accession Q92838 A0AUZ2 A2A337 B7ZLU2 B7ZLU4 O75910 Q5JS00 Q5JUM7 Q9UP77 Q9Y6L0 Q9Y6L1 Q9Y6L2 Q9Y6L3 Q9Y6L4
Symbols ED1
HED
EDA1
EDA2
HED1
ODT1
XHED
ECTD1
XLHED
ED1-A1
ED1-A2
EDA-A1
EDA-A2
TNLG7C
STHAGX1

Gene

EDA

PDB

1RJ7   1RJ8  

Gene RIF (62)

PMID Text
26634545 Our findings indicate that a novel mutation (c.878T>G) of EDA is associated with XLHED and adds to the repertoire of EDA mutations.
25846883 A novel missense mutation in the EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.
25626993 We found a novel missense mutation in exon 1 of the EDA1 gene in a putative Mayan family from Mexico with XL-HED.
25438642 hemizygous frame-shift mutation c. 731delG (p.R244Qfs*36) underlies hypohidrotic ectodermal dysplasia in a Japanese family
25296636 novel nonsense mutation in Chinese family
25203534 novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis
24985548 dentified a novel deletion mutation located in exon 1 which if expressed would produce a highly truncated protein in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia
24554542 involvement of PAX9, EDA, SPRY2, SPRY4, and WNT10A as risk factors for MLIA. uncovered 3 strong synergistic interactions between MLIA liability and MSX1-TGFA, AXIN2-TGFA, and SPRY2-SPRY4 gene pairs. 1st evidence of sprouty genes in MLIA susceptibility.
24503206 hemizygous nonsense mutation c.739C>T (p.Q247X) in exon 4 associated with x-linked hypohidrotic ectodermal dysplasia
24312213 WNT10A and EDA digenic mutations could result in oligodontia and syndromic tooth agenesis in the Chinese population. Moreover, our results will greatly expand the genotypic spectrum of tooth agenesis.
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AA Sequence

MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRR      1 - 70
ERGAESRLGGSGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFF     71 - 140
PDEKPYSEEESRRVRRNKRSKSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPG    141 - 210
TTVMGPPGPPGPPGPQGPPGLQGPSGAADKAGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMN    211 - 280
PKVFKLHPRSGELEVLVDGTYFIYSQVEVYYINFTDFASYEVVVDEKPFLQCTRSIETGKTNYNTCYTAG    281 - 350
VCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS                                 351 - 391
//

Text Mined References (100)

PMID Year Title
27144394 2016 Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.
26646413 2016 Comparative genomic analysis of eutherian tumor necrosis factor ligand genes.
26634545 2015 Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia.
25846883 2015 A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.
25626993 2015 Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia.
25438642 2014 Novel EDA hemizygous frame-shift mutation c. 731delG (p.R244Qfs*36) underlies hypohidrotic ectodermal dysplasia in a Japanese family.
25416956 2014 A proteome-scale map of the human interactome network.
25296636 2014 Novel nonsense mutation of the EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.
25203534 2014 Whole genome sequencing reveals novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis.
24985548 2014 A novel 1-bp deletion mutation of the EDA gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia.
More...