AutismKB 2.0

Annotation Detail for EDA2R


View Evidences View Variants View Annotations
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
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04060Cytokine-cytokine receptor interaction
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1719Ectodermal dysplasia
Desease Name
Alopecia
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C010914 2,4-diaminotoluene 2,4-diaminotoluene results in increased expression of EDA2R mRNAincreases expression 20713471
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of EDA2R mRNAincreases expression 16788091
D016572 Cyclosporine Cyclosporine results in increased expression of EDA2R mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001943 Breast Neoplasms 2,4-diaminotoluene 3.1211921183
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8212371664
MESH:D002779 Cholestasis Cyclosporine 3.2419486331
MESH:D005234 Fatty Liver Cyclosporine 3.3419224547
MESH:D005355 Fibrosis Cyclosporine 3.7912168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006973 Hypertension Cyclosporine 2.2310903974
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5618776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1212371664
MESH:D008325 Mammary Neoplasms, Experimental 2,4-diaminotoluene 3.8411921183
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7019348381 18481113
MESH:D011230 Precancerous Conditions Cyclosporine 3.6412371664
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
Pathway ID Pathway Name
KEGG:04060 Cytokine-cytokine receptor interaction
Pharmacogenomics Knowledge Base Top
Drug Bank Top

Simple Query:


  (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