EDAR
entrez
10913
canonical
uniprot
Q9UNE0
canonical
ensembl
ENSG00000135960
resolver
ensp
ENSP00000258443
resolver
ensp
ENSP00000365839
resolver
genesymbol
EDAR
resolver
genesymbol_syn
DL
resolver
hgnc
HGNC:2895
resolver
uniprot
B2R9H2
resolver
uniprot
B4DLC5
resolver
uniprot
D3DX74
resolver
uniprot
E9PC98
resolver
uniprot
Q52LL5
resolver
uniprot
Q9UND9
resolver
uniprot_entry
EDAR_HUMAN
resolver
uniprot_sec
B2R9H2
resolver
uniprot_sec
B4DLC5
resolver
uniprot_sec
D3DX74
resolver
uniprot_sec
E9PC98
resolver
uniprot_sec
Q52LL5
resolver
uniprot_sec
Q9UND9
resolver
amino_acid_sequence
MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGENEYYNQTTGLCQECPPCGPGEEPYLSCGYGTKDEDYGCVPCPAEKFSKGGYQICRRHKDCEGFFRATVLTPGDMENDAECGPCLPGYYMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGASANFPGTSGSSTLSPFQHAHKELSGQGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAPACCTSHPGKSVEAQVSKDEEKKEAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSENEQLLSRSVDSDEEPAPDKQGSPELCLLSLVHLAREKSATSNKSAGIQSRRKKILDVYANVCGVVEGLSPTELPFDCLEKTSRMLSSTYNSEKAVVKTWRHLAESFGLKRDEIGGMTDGMQLFDRISTAGYSIPELLTKLVQIERLDAVESLCADILEWAGVVPPASQPHAAS
uniprot
proteins
disease_involvement
DISEASE: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A) [MIM:129490]: 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:10431241, ECO:0000269|PubMed:18231121}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]: 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:10431241, ECO:0000269|PubMed:15373768, ECO:0000269|PubMed:16029325, ECO:0000269|PubMed:16435307, ECO:0000269|PubMed:18231121, ECO:0000269|PubMed:19438931, ECO:0000269|PubMed:20979233, ECO:0000269|PubMed:27657131}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death.
uniprot
proteins
mass_dalton
48582
uniprot
proteins
mutagenesis
MUTAGEN 379; /note="E->K: Reduces activation of NF-kappa-B."; /evidence="ECO:0000269|PubMed:11035039
uniprot
proteins
pubmed
10431241
uniprot
proteins
pubmed
11035039
uniprot
proteins
pubmed
11039935
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15373768
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16029325
uniprot
proteins
pubmed
16435307
uniprot
proteins
pubmed
18065779
uniprot
proteins
pubmed
18231121
uniprot
proteins
pubmed
18561327
uniprot
proteins
pubmed
19438931
uniprot
proteins
pubmed
20979233
uniprot
proteins
pubmed
27657131
uniprot
proteins
sequence_length
448
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 188..208; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins