EDAR

Protein identityUniProt · HPA

UniProt accession

Q9UNE0

Gene

EDAR

Ensembl

ENSG00000135960

Chromosome

2

Canonical length

448 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

448 residues, UniProt reviewed canonical sequence.

>Q9UNE0|EDAR
     1  MAHVGDCTQT PWLPVLVVSL MCSARAEYSN CGENEYYNQT TGLCQECPPC GPGEEPYLSC
    61  GYGTKDEDYG CVPCPAEKFS KGGYQICRRH KDCEGFFRAT VLTPGDMEND AECGPCLPGY
   121  YMLENRPRNI YGMVCYSCLL APPNTKECVG ATSGASANFP GTSGSSTLSP FQHAHKELSG
   181  QGHLATALII AMSTIFIMAI AIVLIIMFYI LKTKPSAPAC CTSHPGKSVE AQVSKDEEKK
   241  EAPDNVVMFS EKDEFEKLTA TPAKPTKSEN DASSENEQLL SRSVDSDEEP APDKQGSPEL
   301  CLLSLVHLAR EKSATSNKSA GIQSRRKKIL DVYANVCGVV EGLSPTELPF DCLEKTSRML
   361  SSTYNSEKAV VKTWRHLAES FGLKRDEIGG MTDGMQLFDR ISTAGYSIPE LLTKLVQIER
   421  LDAVESLCAD ILEWAGVVPP ASQPHAAS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EDAR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.47

Highest tissue expression

3.5 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EDAR.

Disease | AllUniProt

Conditions EDAR is implicated in, by any mechanism.

• Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A) MIM:129490
• Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) MIM:224900

Disease | GeneticClinVar

95 pathogenic / likely-pathogenic of 393 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
• Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
• Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
• Ectodermal dysplasia
• Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.91

gnomAD pLI

0

gnomAD missense Z

0.73

DepMap mean gene effect

0

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apoptotic process
• cell differentiation
• cytokine-mediated signaling pathway
• epidermis development
• hair follicle development
• odontogenesis of dentin-containing tooth
• pigmentation
• positive regulation of canonical NF-kappaB signal transduction
• positive regulation of gene expression
• positive regulation of JNK cascade
• positive regulation of non-canonical NF-kappaB signal transduction
• salivary gland cavitation

Molecular functions

• signaling receptor activity
• transmembrane signaling receptor activity

Cellular components

• apical part of cell
• membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Death-like domain superfamily
• Tumor necrosis factor receptor superfamily member 19/27/EDAR
• Tumor necrosis factor receptor EDAR, N-terminal
• Tumor necrosis factor receptor superfamily member EDAR, death domain
• EDAR death domain

KeywordsUniProt

• Apoptosis
• Developmental protein
• Differentiation
• Disulfide bond
• Ectodermal dysplasia
• Glycoprotein
• Membrane
• Receptor
• Repeat
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of EDAR in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TRAF3
• TRAF1
• TRAF2