EDA2R

Protein identityUniProt · HPA

UniProt accession

Q9HAV5

Gene

EDA2R

Ensembl

ENSG00000131080

Chromosome

X

Canonical length

297 aa

Protein class

Predicted membrane proteins

Subcellular location

Cell Junctions

OverviewNCBI Gene

The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016]

Canonical amino-acid sequenceUniProt

297 residues, UniProt reviewed canonical sequence.

>Q9HAV5|EDA2R
     1  MDCQENEYWD QWGRCVTCQR CGPGQELSKD CGYGEGGDAY CTACPPRRYK SSWGHHRCQS
    61  CITCAVINRV QKVNCTATSN AVCGDCLPRF YRKTRIGGLQ DQECIPCTKQ TPTSEVQCAF
   121  QLSLVEADTP TVPPQEATLV ALVSSLLVVF TLAFLGLFFL YCKQFFNRHC QRGGLLQFEA
   181  DKTAKEESLF PVPPSKETSA ESQVSENIFQ TQPLNPILED DCSSTSGFPT QESFTMASCT
   241  SESHSHWVHS PIECTELDLQ KFSSSASYTG AETLGGNTVE STGDRLELNV PFEVPSP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EDA2R 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)

0.52

Highest tissue expression

7.7 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EDA2R.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 69 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypodontia

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)

1.34

gnomAD pLI

0

gnomAD missense Z

-0.21

DepMap mean gene effect

0.15

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cytokine-mediated signaling pathway
• ectodermal cell differentiation
• epidermis development
• intrinsic apoptotic signaling pathway by p53 class mediator
• positive regulation of canonical NF-kappaB signal transduction
• positive regulation of JNK cascade

Molecular functions

• signaling receptor activity
• transmembrane signaling receptor activity
• tumor necrosis factor receptor activity

Cellular components

• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• TNFR/NGFR cysteine-rich region
• Tumor necrosis factor receptor superfamily member 19/27/EDAR
• TNFR/NGFR cysteine-rich region
• Tumour necrosis factor receptor 27
• Tumor necrosis factor receptor 27, N-terminal

KeywordsUniProt

• Developmental protein
• Differentiation
• Disulfide bond
• Glycoprotein
• Membrane
• Receptor
• Repeat
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of EDA2R in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TRAF3
• TRAF6