Seroatlas · Human Serome Atlas

EDA

Ectodysplasin-A

Also known as: ED1, ED1-A1, ED1-A2, EDA_HUMAN, EDA-A1, EDA-A2, EDA1, EDA2, HED, ODT1, XHED, XLHED

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q92838
Gene
EDA
Ensembl
ENSG00000158813
Chromosome
X
Canonical length
391 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Predicted secreted proteins
Subcellular location
Vesicles,Lipid droplets
Secretome location
Secreted - unknown location
Quaternary structure
Homotrimer

OverviewNCBI Gene

The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

391 residues, UniProt reviewed canonical sequence.

>Q92838|EDA
     1  MGYPEVERRE LLPAAAPRER GSQGCGCGGA PARAGEGNSC LLFLGFFGLS LALHLLTLCC
    61  YLELRSELRR ERGAESRLGG SGTPGTSGTL SSLGGLDPDS PITSHLGQPS PKQQPLEPGE
   121  AALHSDSQDG HQMALLNFFF PDEKPYSEEE SRRVRRNKRS KSNEGADGPV KNKKKGKKAG
   181  PPGPNGPPGP PGPPGPQGPP GIPGIPGIPG TTVMGPPGPP GPPGPQGPPG LQGPSGAADK
   241  AGTRENQPAV VHLQGQGSAI QVKNDLSGGV LNDWSRITMN PKVFKLHPRS GELEVLVDGT
   301  YFIYSQVEVY YINFTDFASY EVVVDEKPFL QCTRSIETGK TNYNTCYTAG VCLLKARQKI
   361  AVKMVHADIS INMSKHTTFF GAIRLGEAPA S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EDA 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)
0.54
Highest tissue expression
9.1 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 9.1 nTPM
  • heart muscle: 8.7 nTPM
  • adrenal gland: 7.2 nTPM
  • thyroid gland: 5.6 nTPM
  • fallopian tube: 4 nTPM
  • ovary: 3.9 nTPM

Single-cell type

  • fibro-adipogenic progenitors: 400 nCPM
  • adrenal cortex cells: 299 nCPM
  • lacrimal acinar cells: 286 nCPM
  • cardiomyocytes: 266 nCPM
  • epicardial cells: 209 nCPM
  • macrophages: 203 nCPM

Immune cell

  • MAIT T-cell: 1.3 nTPM
  • intermediate monocyte: 1.2 nTPM
  • non-classical monocyte: 0.8 nTPM
  • memory CD4 T-cell: 0.6 nTPM
  • naive CD4 T-cell: 0.3 nTPM
  • memory CD8 T-cell: 0.2 nTPM

Brain region

  • choroid plexus: 10 nTPM
  • white matter: 8.9 nTPM
  • medulla oblongata: 6.1 nTPM
  • thalamus: 5.8 nTPM
  • pons: 5.7 nTPM
  • basal ganglia: 5.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EDA.

Disease | AllUniProt

Conditions EDA is implicated in, by any mechanism.

  • Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) MIM:305100
  • Tooth agenesis, selective, X-linked, 1 (STHAGX1) MIM:313500

Disease | GeneticClinVar

291 pathogenic / likely-pathogenic of 697 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.27
gnomAD pLI
0.97
gnomAD missense Z
1.78
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EDA as an antibody target. Whether an autoantibody or antibody against EDA could matter depends on whether native EDA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EDA is annotated at the cell surface, where native EDA is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label EDA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EDA. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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