EDARADD

Protein identityUniProt · HPA

UniProt accession

Q8WWZ3

Gene

EDARADD

Ensembl

ENSG00000186197

Chromosome

1

Canonical length

215 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

215 residues, UniProt reviewed canonical sequence.

>Q8WWZ3|EDARADD
     1  MGLRTTKQMG RGTKAPGHQE DHMVKEPVED TDPSTLSFNM SDKYPIQDTE LPKAEECDTI
    61  TLNCPRNSDM KNQGEENGFP DSTGDPLPEI SKDNSCKENC TCSSCLLRAP TISDLLNDQD
   121  LLDVIRIKLD PCHPTVKNWR NFASKWGMSY DELCFLEQRP QSPTLEFLLR NSQRTVGQLM
   181  ELCRLYHRAD VEKVLRRWVD EEWPKRERGD PSRHF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EDARADD 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.51

Highest tissue expression

8.1 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EDARADD.

Disease | AllUniProt

Conditions EDARADD is implicated in, by any mechanism.

• Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) MIM:614940
• Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B) MIM:614941

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 176 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
• Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
• Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
• ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
• Tooth agenesis

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)

1.15

gnomAD pLI

0

gnomAD missense Z

1.14

DepMap mean gene effect

0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell differentiation
• signal transduction

Cellular components

• cytosol

Protein domainsUniProt · Pfam · InterPro

• Death domain
• Death-like domain superfamily
• Death domain
• Ectodysplasin-A receptor-associated adapter protein

KeywordsUniProt

• Cytoplasm
• Developmental protein
• Differentiation
• Ectodermal dysplasia

InteractionsUniProt · HPA

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

• TRAF2
• TRAF6