InnateDB Protein
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IDBP-153319.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Edar
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Protein Name
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ectodysplasin-A receptor
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Synonyms
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dl; ED1R; ED3; ED5; EDA-A1R; EDA3;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000003312
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InnateDB Gene
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IDBG-153317 (Edar)
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Protein Structure
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Function |
Receptor for EDA isoform TAA, but not for EDA isoform TA-2 (By similarity). May mediate the activation of NF-kappa-B and JNK. May promote caspase-independent cell death. {ECO:0000250}.
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Subcellular Localization |
Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
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Disease Associations |
Note=Defects in Edar are a cause of the downless phenotype in mice (the equivalent of anhidrotic ectodermal dysplasia in humans). The disease is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
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Predicted by orthology |
Total |
5 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:1343498
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InterPro |
IPR000488
Death domain
IPR011029
Death-like domain
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PFAM |
PF00531
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PRINTS |
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PIRSF |
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SMART |
SM00005
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TIGRFAMs |
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Modification |
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SwissProt |
Q9R187
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PhosphoSite |
PhosphoSite-Q9R187
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
13608
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UniGene |
Mm.174523
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RefSeq |
NP_034230
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MGI ID |
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MGI Symbol |
Edar
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OMIM |
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CCDS |
CCDS23862
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HPRD |
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IMGT |
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EMBL |
AF160502
AK004576
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GenPept |
AAD50425
BAB23385
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