AutismKB 2.0

Annotation Details 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
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005622IEA-intracellular-
GO:0005886IBA-plasma membrane-
GO:0005886TAS-plasma membrane-
GO:0005887IEA-integral component of plasma membrane-
GO:0016021IC-integral component of membrane12270937
GO ID Evidence Qualifier GO_term References
GO:0004872IDA-receptor activity11039935
GO:0005031NAS-tumor necrosis factor-activated receptor activity11039935
GO:0005515IPI-protein binding11039935
GO ID Evidence Qualifier GO_term References
GO:0007275IEA-multicellular organism development-
GO:0008544NAS-epidermis development11039935
GO:0009888IBA-tissue development-
GO:0010668IC-ectodermal cell differentiation12270937
GO:0033209TAS-tumor necrosis factor-mediated signaling pathway-
GO:0043123IBA-positive regulation of I-kappaB kinase/NF-kappaB signaling-
GO:0046330IDA-positive regulation of JNK cascade12270937
GO:0051092IDA-positive regulation of NF-kappaB transcription factor activity11039935
GO:0072332IEA-intrinsic apoptotic signaling pathway by p53 class mediator-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EDA2RTRAF312190412270937 Affinity Capture-Western
EDA2RTRAF311303912270937 Affinity Capture-Western
EDA2RTRAF612190412270937 Affinity Capture-Western
EDA2RTRAF611304112270937 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2442860
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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