AutismKB 2.0

Annotation Detail for EDA2R


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Basic Information Top
Gene Symbol:EDA2R ( EDA-A2R,EDAA2R,TNFRSF27,XEDAR )
Gene Full Name: ectodysplasin A2 receptor
Band: Xq12
Quick LinksEntrez ID:60401; OMIM: 300276; Uniprot ID:TNR27_HUMAN; ENSEMBL ID: ENSG00000131080; HGNC ID: 17756
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
74N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
74N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
12C-linkedHMM predict
74N-linkedHMM predict
80N-linkedHMM predict
111Phosphothreonine(CDK)HMM predict
111Phosphothreonine(MAPK)HMM predict
111Phosphothreonine(PKA)HMM predict
113Phosphothreonine(MAPK)HMM predict
114Phosphoserine(MAPK)HMM predict
195Phosphoserine(IKK)HMM predict
199Phosphoserine(CK1)HMM predict
202Phosphoserine(ATM)HMM predict
223Phosphoserine(CK1)HMM predict
233Phosphoserine(PKA)HMM predict
233O-linkedHMM predict
241Phosphoserine(CK1)HMM predict
269O-linkedHMM predict
295ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021783
  • Location:chrX 65732207-65752597
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 SenescentGSE19898 65759061 65759280 219 6573
No data
No data
Validated miRNA targets Top
Cis-Nats regulation Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018