|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:EDA
gptkb:EDARADD
ectodermal dysplasia
hypohidrotic ectodermal dysplasia
|
|
gptkbp:discoveredBy
|
researchers studying ectodermal dysplasia
|
|
gptkbp:encodes
|
gptkb:Ectodysplasin_A_receptor_protein
|
|
gptkbp:Entrez_Gene_ID
|
1366
ENSG00000135968
|
|
gptkbp:expressedIn
|
ectodermal tissues
|
|
gptkbp:fullName
|
gptkb:Ectodysplasin_A_receptor
|
|
gptkbp:function
|
receptor in the TNF receptor superfamily
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:3158
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
EDAR
|
|
gptkbp:involvedIn
|
development of hair, teeth, and sweat glands
|
|
gptkbp:length
|
448 amino acids
|
|
gptkbp:ligand
|
gptkb:Ectodysplasin_A_(EDA)
|
|
gptkbp:locatedOnChromosome
|
2
2q13
|
|
gptkbp:mutationAssociatedWith
|
can cause abnormal development of ectodermal tissues
|
|
gptkbp:OMIM
|
604095
|
|
gptkbp:orthologIn
|
gptkb:mouse_Edar
|
|
gptkbp:pathway
|
gptkb:NF-kappaB_signaling_pathway
|
|
gptkbp:UniProtID
|
gptkb:Q9UNE0
|
|
gptkbp:bfsParent
|
gptkb:Economic_Development_in_Africa_Report
|
|
gptkbp:bfsLayer
|
5
|