EDARADD
entrez
128178
canonical
uniprot
Q8WWZ3
canonical
ensembl
ENSG00000186197
resolver
ensp
ENSP00000335076
resolver
ensp
ENSP00000352320
resolver
ensp
ENSP00000490347
resolver
enst
ENST00000637660
resolver
genesymbol
EDARADD
resolver
hgnc
HGNC:14341
resolver
uniprot
A0A1B0GV26
resolver
uniprot
A2VCK5
resolver
uniprot
A8K7B5
resolver
uniprot
B1AL54
resolver
uniprot
B9ZVW5
resolver
uniprot
Q5VYJ7
resolver
uniprot_entry
A0A1B0GV26_HUMAN
resolver
uniprot_entry
EDAD_HUMAN
resolver
uniprot_sec
A2VCK5
resolver
uniprot_sec
A8K7B5
resolver
uniprot_sec
B1AL54
resolver
uniprot_sec
B9ZVW5
resolver
uniprot_sec
Q5VYJ7
resolver
amino_acid_sequence
MGLRTTKQMGRGTKAPGHQEDHMVKEPVEDTDPSTLSFNMSDKYPIQDTELPKAEECDTITLNCPRNSDMKNQGEENGFPDSTGDPLPEISKDNSCKENCTCSSCLLRAPTISDLLNDQDLLDVIRIKLDPCHPTVKNWRNFASKWGMSYDELCFLEQRPQSPTLEFLLRNSQRTVGQLMELCRLYHRADVEKVLRRWVDEEWPKRERGDPSRHF
uniprot
proteins
disease_involvement
DISEASE: Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) [MIM:614940]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands. {ECO:0000269|PubMed:17354266, ECO:0000269|PubMed:20979233}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B) [MIM:614941]: A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. {ECO:0000269|PubMed:11780064, ECO:0000269|PubMed:17354266, ECO:0000269|PubMed:20222921}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B. {ECO:0000269|PubMed:11882293}.
uniprot
proteins
mass_dalton
24802
uniprot
proteins
pubmed
11780064
uniprot
proteins
pubmed
11882293
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17354266
uniprot
proteins
pubmed
18231121
uniprot
proteins
pubmed
20222921
uniprot
proteins
pubmed
20979233
uniprot
proteins
sequence_length
215
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
uniprot
proteins