EDA
entrez
1896
canonical
uniprot
Q92838
canonical
ensembl
ENSG00000158813
resolver
ensp
ENSP00000363680
resolver
ensp
ENSP00000363681
resolver
ensp
ENSP00000432585
resolver
ensp
ENSP00000434195
resolver
ensp
ENSP00000434861
resolver
genesymbol
EDA
resolver
genesymbol
TNLG7C
resolver
genesymbol_syn
ED1
resolver
genesymbol_syn
EDA2
resolver
hgnc
HGNC:3157
resolver
uniprot
A0A0U5J797
resolver
uniprot
A0AUZ2
resolver
uniprot
A2A337
resolver
uniprot
B7ZLU2
resolver
uniprot
B7ZLU4
resolver
uniprot
O75910
resolver
uniprot
Q5JS00
resolver
uniprot
Q5JUM7
resolver
uniprot
Q9UP77
resolver
uniprot
Q9Y6L0
resolver
uniprot
Q9Y6L1
resolver
uniprot
Q9Y6L2
resolver
uniprot
Q9Y6L3
resolver
uniprot
Q9Y6L4
resolver
uniprot_entry
A0A0U5J797_HUMAN
resolver
uniprot_entry
EDA_HUMAN
resolver
uniprot_sec
A0AUZ2
resolver
uniprot_sec
A2A337
resolver
uniprot_sec
B7ZLU2
resolver
uniprot_sec
B7ZLU4
resolver
uniprot_sec
O75910
resolver
uniprot_sec
Q5JS00
resolver
uniprot_sec
Q5JUM7
resolver
uniprot_sec
Q9UP77
resolver
uniprot_sec
Q9Y6L0
resolver
uniprot_sec
Q9Y6L1
resolver
uniprot_sec
Q9Y6L2
resolver
uniprot_sec
Q9Y6L3
resolver
uniprot_sec
Q9Y6L4
resolver
amino_acid_sequence
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGGSGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRSKSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADKAGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEVYYINFTDFASYEVVVDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:10469321, ECO:0000269|PubMed:10951256, ECO:0000269|PubMed:11279189, ECO:0000269|PubMed:11295832, ECO:0000269|PubMed:11309369, ECO:0000269|PubMed:11343303, ECO:0000269|PubMed:11378824, ECO:0000269|PubMed:11416205, ECO:0000269|PubMed:12225002, ECO:0000269|PubMed:12932274, ECO:0000269|PubMed:17256800, ECO:0000269|PubMed:18231121, ECO:0000269|PubMed:19127222, ECO:0000269|PubMed:19438931, ECO:0000269|PubMed:20486090, ECO:0000269|PubMed:20979233, ECO:0000269|PubMed:22008666, ECO:0000269|PubMed:22350046, ECO:0000269|PubMed:24724966, ECO:0000269|PubMed:27144394, ECO:0000269|PubMed:27657131, ECO:0000269|PubMed:34582123, ECO:0000269|PubMed:38287639, ECO:0000269|PubMed:8696334, ECO:0000269|PubMed:9507389, ECO:0000269|PubMed:9630076, ECO:0000269|PubMed:9683615, ECO:0000269|PubMed:9736768}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:16583127, ECO:0000269|PubMed:18657636, ECO:0000269|PubMed:19278982, ECO:0000269|PubMed:23603338, ECO:0000269|PubMed:23625373, ECO:0000269|PubMed:24487376, ECO:0000269|PubMed:27144394, ECO:0000269|PubMed:38287639}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:11039935, PubMed:27144394, PubMed:34582123, PubMed:8696334). May also play a role in cell adhesion (By similarity). {ECO:0000250|UniProtKB:O54693, ECO:0000269|PubMed:11039935, ECO:0000269|PubMed:27144394, ECO:0000269|PubMed:34582123, ECO:0000269|PubMed:8696334}.; FUNCTION: [Isoform 1]: Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R. {ECO:0000269|PubMed:11039935, ECO:0000269|PubMed:27144394}.; FUNCTION: [Isoform 3]: Binds only to the receptor EDA2R. {ECO:0000269|PubMed:11039935, ECO:0000269|PubMed:27144394}.
uniprot
proteins
mass_dalton
41294
uniprot
proteins
mutagenesis
MUTAGEN 159; /note="R->A: Abolishes proteolytic processing."; /evidence="ECO:0000269|PubMed:11416205
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250|UniProtKB:O54693}.; PTM: Processing by furin produces a secreted form. {ECO:0000269|PubMed:11416205}.
uniprot
proteins
protein_family
Tumor necrosis factor family
uniprot
proteins
pubmed
10469321
uniprot
proteins
pubmed
10951256
uniprot
proteins
pubmed
11039935
uniprot
proteins
pubmed
11279189
uniprot
proteins
pubmed
11295832
uniprot
proteins
pubmed
11309369
uniprot
proteins
pubmed
11343303
uniprot
proteins
pubmed
11378824
uniprot
proteins
pubmed
11416205
uniprot
proteins
pubmed
12225002
uniprot
proteins
pubmed
12932274
uniprot
proteins
pubmed
14656435
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16583127
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17256800
uniprot
proteins
pubmed
18231121
uniprot
proteins
pubmed
18657636
uniprot
proteins
pubmed
19127222
uniprot
proteins
pubmed
19278982
uniprot
proteins
pubmed
19438931
uniprot
proteins
pubmed
20486090
uniprot
proteins
pubmed
20979233
uniprot
proteins
pubmed
22008666
uniprot
proteins
pubmed
22350046
uniprot
proteins
pubmed
23603338
uniprot
proteins
pubmed
23625373
uniprot
proteins
pubmed
24487376
uniprot
proteins
pubmed
24724966
uniprot
proteins
pubmed
27144394
uniprot
proteins
pubmed
27657131
uniprot
proteins
pubmed
34582123
uniprot
proteins
pubmed
38287639
uniprot
proteins
pubmed
8696334
uniprot
proteins
pubmed
9507389
uniprot
proteins
pubmed
9630076
uniprot
proteins
pubmed
9683615
uniprot
proteins
pubmed
9736768
uniprot
proteins
sequence_length
391
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:O54693}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:O54693}.; SUBCELLULAR LOCATION: [Ectodysplasin-A, secreted form]: Secreted {ECO:0000269|PubMed:11309369, ECO:0000269|PubMed:34582123}.
uniprot
proteins
transmembrane_region
TRANSMEM 42..62; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins