Homo sapiens Gene: EDA2R
Summary
InnateDB Gene IDBG-73673.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EDA2R
Gene Name ectodysplasin A2 receptor
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000131080
Encoded Proteins
ectodysplasin A2 receptor
ectodysplasin A2 receptor
ectodysplasin A2 receptor
ectodysplasin A2 receptor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome X:66595637-66639298
Strand Reverse strand
Band q12
Transcripts
ENST00000374719 ENSP00000363851
ENST00000253392 ENSP00000253392
ENST00000396050 ENSP00000379365
ENST00000451436 ENSP00000415242
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004872 receptor activity
GO:0005031 tumor necrosis factor-activated receptor activity
GO:0005515 protein binding
Biological Process
GO:0008544 epidermis development
GO:0009790 embryo development
GO:0030154 cell differentiation
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0046330 positive regulation of JNK cascade
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator
Cellular Component
GO:0005887 integral component of plasma membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Cytokine-cytokine receptor interaction pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 60401
UniGene Hs.302017 Hs.607657
RefSeq NM_001199687 NM_001242310 NM_021783 XM_005262285 XM_006724675 XM_006724676 XM_006724678 XM_006724679
HUGO HGNC:17756
OMIM 300276
CCDS CCDS14386 CCDS56603
HPRD 02230
IMGT
EMBL AF298812 AL353136 AY152724 AY358735 AY358736 BC034919
GenPept AAG28761 AAH34919 AAN73210 AAQ89952 AAQ89953 CAH70433 CAH70434
RNA Seq Atlas 60401