InnateDB Protein
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IDBP-74172.6
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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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EDA
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Protein Name
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ectodysplasin A
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Synonyms
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ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2; EDA1; EDA2; HED; HED1; ODT1; STHAGX1; XHED; XLHED;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000363680
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InnateDB Gene
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IDBG-74170 (EDA)
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Protein Structure
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Function |
Seems to be involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Isoform 1 binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor XEDAR.
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Subcellular Localization |
Cell membrane; Single-pass type II membrane protein.Ectodysplasin-A, secreted form: Secreted.
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Disease Associations |
Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias. {ECO:0000269PubMed:10469321, ECO:0000269PubMed:10951256, ECO:0000269PubMed:11279189, ECO:0000269PubMed:11295832, ECO:0000269PubMed:11343303, ECO:0000269PubMed:11378824, ECO:0000269PubMed:12225002, ECO:0000269PubMed:12932274, ECO:0000269PubMed:17256800, ECO:0000269PubMed:18231121, ECO:0000269PubMed:19127222, ECO:0000269PubMed:19438931, ECO:0000269PubMed:20486090, ECO:0000269PubMed:20979233, ECO:0000269PubMed:22008666, ECO:0000269PubMed:22350046, ECO:0000269PubMed:8696334, ECO:0000269PubMed:9507389, ECO:0000269PubMed:9630076, ECO:0000269PubMed:9683615, ECO:0000269PubMed:9736768}. Note=The disease is caused by mutations affecting the gene represented in this entry.Tooth agenesis selective X-linked 1 (STHAGX1) [MIM:313500]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). {ECO:0000269PubMed:16583127, ECO:0000269PubMed:18657636}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and umbilical chord. {ECO:0000269Ref.6}.
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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 4 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
4
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR006052
Tumour necrosis factor domain
IPR008160
Collagen triple helix repeat
IPR008983
Tumour necrosis factor-like domain
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PFAM |
PF00229
PF01391
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PRINTS |
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PIRSF |
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SMART |
SM00207
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TIGRFAMs |
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Modification |
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SwissProt |
Q92838
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PhosphoSite |
PhosphoSite-Q92838
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TrEMBL |
D6RA95
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UniProt Splice Variant |
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Entrez Gene |
1896
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UniGene |
Hs.105407
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RefSeq |
NP_001390
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HUGO |
HGNC:3157
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OMIM |
300451
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CCDS |
CCDS14394
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HPRD |
02347
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IMGT |
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EMBL |
AC002416
AF003528
AF040628
AF060999
AF061189
AF061190
AF061191
AF061192
AF061193
AF061194
AH006445
AL158069
AL158141
AL392090
AL450448
AL450449
BC126143
BC144049
BC144051
FO393403
U59227
U59228
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GenPept |
AAC36302
AAC36303
AAC50678
AAC50679
AAC77363
AAC77371
AAC77372
AAC77373
AAC77374
AAC77375
AAC77376
AAI26144
AAI44050
AAI44052
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