Homo sapiens Gene: EDARADD

Summary
InnateDB Gene IDBG-107598.4
Last Modified 2011-02-17   [Report errors or provide feedback]
Gene Symbol EDARADD
Gene Name EDAR-associated death domain
Synonyms ECTD11A; ECTD11B; ED3; EDA3
Species Homo sapiens
Ensembl Gene ENSG00000186197
Encoded Proteins
IDBP-107600 EDAR-associated death domain
IDBP-107602 EDAR-associated death domain
IDBP-390162 EDAR-associated death domain
Entrez Gene
Summary This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1: 236511562-236648026
Strand Forward strand
Band q42.3
Transcripts
ENST00000359362  ENSP00000352320
ENST00000334232  ENSP00000335076
ENST00000439430  ENSP00000405815
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein‑Protein  8
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0005515 protein binding
Biological Process
GO:0001942 hair follicle development
GO:0007165 signal transduction
GO:0030154 cell differentiation
GO:0042475 odontogenesis of dentin-containing tooth
GO:0061153 trachea gland development
Cellular Component
GO:0005737 cytoplasm
Orthologs
Species
Bos taurus
Mus musculus
Gene ID Gene Order Method Confidence Comments
ENSBTAG00000044197 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
ENSMUSG00000095105 Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q8WWZ3 
TrEMBL B1AL55
UniProt Splice Variant
Entrez Gene 128178 
UniGene Hs.352224
RefSeq NM_080738  NM_145861 
HUGO 14341 
OMIM 606603
CCDS CCDS1610  CCDS31065 
HPRD 05965
IMGT
EMBL AK290862 AK291930 AK314634 AL136105 AL354693 AL450309 AY028906 AY028907 AY028908 AY028909 AY028910 AY028911 AY028912 AY028913 AY028914 AY071862 BC128082 CH471098
GenPept AAI28083  AAK40285  AAK40286  AAK40287  AAK40288  AAL60590  BAF83551  BAF84619  BAG37197  CAH70608  CAH70609  CAH70610  CAI22302  CAI22303  CAI22304  EAW70052 
ImmGen EDARADD (murine) 
RNA Seq Atlas 128178