Gene Gene information from NCBI Gene database.
Entrez ID 60401
Gene name Ectodysplasin A2 receptor
Gene symbol EDA2R
Synonyms (NCBI Gene)
EDA-A2REDAA2RTNFRSF27XEDAR
Chromosome X
Chromosome location Xq12
Summary The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin,
miRNA miRNA information provided by mirtarbase database.
227
miRTarBase ID miRNA Experiments Reference
MIRT016618 hsa-miR-484 Sequencing 20371350
MIRT544097 hsa-miR-511-3p PAR-CLIP 21572407
MIRT544096 hsa-miR-567 PAR-CLIP 21572407
MIRT558240 hsa-miR-4796-5p PAR-CLIP 21572407
MIRT544095 hsa-miR-223-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IDA 11039935
GO:0005031 Function Tumor necrosis factor receptor activity IEA
GO:0005031 Function Tumor necrosis factor receptor activity NAS 11039935
GO:0005515 Function Protein binding IPI 11039935, 12270937, 15280356, 27144394, 28514442, 32296183, 33961781
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300276 17756 ENSG00000131080
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HAV5
Protein name Tumor necrosis factor receptor superfamily member 27 (X-linked ectodysplasin-A2 receptor) (EDA-A2 receptor)
Protein function Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00020 TNFR_c6 3 41 TNFR/NGFR cysteine-rich region Domain
PF00020 TNFR_c6 44 83 TNFR/NGFR cysteine-rich region Domain
Sequence
MDCQENEYWDQWGRCVTCQRCGPGQELSKDCGYGEGGDAYCTACPPRRYKSSWGHHRCQS
CITCAVINRVQKVNCTATSNAVC
GDCLPRFYRKTRIGGLQDQECIPCTKQTPTSEVQCAF
QLSLVEADTPTVPPQEATLVALVSSLLVVFTLAFLGLFFLYCKQFFNRHCQRGGLLQFEA
DKTAKEESLFPVPPSKETSAESQVSENIFQTQPLNPILEDDCSSTSGFPTQESFTMASCT
SESHSHWVHSPIECTELDLQKFSSSASYTGAETLGGNTVESTGDRLELNVPFEVPSP
Sequence length 297
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway
  TNFs bind their physiological receptors
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypohidrotic X-linked ectodermal dysplasia Uncertain significance rs515726133 RCV000032791
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alopecia Associate 18385763, 19373488
Aspartylglucosaminuria Associate 19373488
Breast Neoplasms Inhibit 20145163
Breast Neoplasms Associate 39300389
Carcinoma Renal Cell Associate 37919386
Cardiovascular Diseases Stimulate 37079385
Epilepsy Post Traumatic Inhibit 38557165
Neoplasms Inhibit 20145163, 33637015
Stomach Neoplasms Inhibit 31829409, 33637015