Entity Details

Primary name EDAR_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UNE0
EntryNameEDAR_HUMAN
FullNameTumor necrosis factor receptor superfamily member EDAR
TaxID9606
Evidenceevidence at protein level
Length448
SequenceStatuscomplete
DateCreated2002-05-27
DateModified2021-06-02

Ontological Relatives

GenesEDAR

GO terms

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GOName
GO:0001942 hair follicle development
GO:0004888 transmembrane signaling receptor activity
GO:0005886 plasma membrane
GO:0006915 apoptotic process
GO:0008544 epidermis development
GO:0010628 positive regulation of gene expression
GO:0016021 integral component of membrane
GO:0030154 cell differentiation
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0038023 signaling receptor activity
GO:0042475 odontogenesis of dentin-containing tooth
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043473 pigmentation
GO:0045177 apical part of cell
GO:0046330 positive regulation of JNK cascade
GO:0060662 salivary gland cavitation
GO:1901224 positive regulation of NIK/NF-kappaB signaling

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR011029 Death-like domain superfamilyFamilyHomologous superfamily
IPR034052 Tumor necrosis factor receptor EDAR, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
224900 OMIMEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)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. The disease is caused by variants affecting the gene represented in this entry.
129490 OMIMEctodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A)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. The disease is caused by variants affecting the gene represented in this entry.