Version 5.4
Homo sapiens Gene: EDARADD
Summary
InnateDB Gene IDBG-107598.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EDARADD
Gene Name EDAR-associated death domain
Synonyms
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
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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 1:236348262-236484914
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 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
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
ENSBTAG00000044197
Not yet available
ENSMUSG00000095105
View Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.352224
RefSeq NM_080738 NM_145861
HUGO
OMIM
CCDS CCDS1610 CCDS31065
HPRD 05965
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca