Seroatlas · Human Serome Atlas

EPAS1

Endothelial PAS domain-containing protein 1

Also known as: bHLHe73, EPAS1_HUMAN, HIF2A, HLF, MOP2, PASD2

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

Protein identityUniProt · HPA

UniProt accession
Q99814
Gene
EPAS1
Ensembl
ENSG00000116016
Chromosome
2
Canonical length
870 aa
Protein class
Cancer-related genes, Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Actin filaments,Cytokinetic bridge,Cytosol

OverviewNCBI Gene

This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]

Canonical amino-acid sequenceUniProt

870 residues, UniProt reviewed canonical sequence.

>Q99814|EPAS1
     1  MTADKEKKRS SSERRKEKSR DAARCRRSKE TEVFYELAHE LPLPHSVSSH LDKASIMRLA
    61  ISFLRTHKLL SSVCSENESE AEADQQMDNL YLKALEGFIA VVTQDGDMIF LSENISKFMG
   121  LTQVELTGHS IFDFTHPCDH EEIRENLSLK NGSGFGKKSK DMSTERDFFM RMKCTVTNRG
   181  RTVNLKSATW KVLHCTGQVK VYNNCPPHNS LCGYKEPLLS CLIIMCEPIQ HPSHMDIPLD
   241  SKTFLSRHSM DMKFTYCDDR ITELIGYHPE ELLGRSAYEF YHALDSENMT KSHQNLCTKG
   301  QVVSGQYRML AKHGGYVWLE TQGTVIYNPR NLQPQCIMCV NYVLSEIEKN DVVFSMDQTE
   361  SLFKPHLMAM NSIFDSSGKG AVSEKSNFLF TKLKEEPEEL AQLAPTPGDA IISLDFGNQN
   421  FEESSAYGKA ILPPSQPWAT ELRSHSTQSE AGSLPAFTVP QAAAPGSTTP SATSSSSSCS
   481  TPNSPEDYYT SLDNDLKIEV IEKLFAMDTE AKDQCSTQTD FNELDLETLA PYIPMDGEDF
   541  QLSPICPEER LLAENPQSTP QHCFSAMTNI FQPLAPVAPH SPFLLDKFQQ QLESKKTEPE
   601  HRPMSSIFFD AGSKASLPPC CGQASTPLSS MGGRSNTQWP PDPPLHFGPT KWAVGDQRTE
   661  FLGAAPLGPP VSPPHVSTFK TRSAKGFGAR GPDVLSPAMV ALSNKLKLKR QLEYEEQAFQ
   721  DLSGGDPPGG STSHLMWKRM KNLRGGSCPL MPDKPLSANV PNDKFTQNPM RGLGHPLRHL
   781  PLPQPPSAIS PGENSKSRFP PQCYATQYQD YSLSSAHKVS GMASRLLGPS FESYLLPELT
   841  RYDCEVNVPV LGSSTLLQGG DLLRALDQAT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EPAS1 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)
0.53
Highest tissue expression
419 nTPM

Expression across tissuesHPA

Tissue

  • placenta: 419 nTPM
  • lung: 389 nTPM
  • adipose tissue: 278 nTPM
  • blood vessel: 273 nTPM
  • breast: 157 nTPM
  • tongue: 144 nTPM

Single-cell type

  • vascular endothelial cells: 1,356 nCPM
  • extravillous trophoblasts: 1,049 nCPM
  • syncytiotrophoblasts: 997 nCPM
  • respiratory secretory cells: 722 nCPM
  • respiratory basal cells: 657 nCPM
  • pericytes: 619 nCPM

Immune cell

  • basophil: 21 nTPM
  • eosinophil: 8.4 nTPM
  • NK-cell: 0.8 nTPM
  • memory CD4 T-cell: 0.2 nTPM
  • classical monocyte: 0.1 nTPM
  • gdT-cell: 0.1 nTPM

Brain region

  • choroid plexus: 303 nTPM
  • thalamus: 173 nTPM
  • medulla oblongata: 137 nTPM
  • pons: 137 nTPM
  • midbrain: 123 nTPM
  • amygdala: 122 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EPAS1.

Disease | AllUniProt

Conditions EPAS1 is implicated in, by any mechanism.

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 1,835 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)
0.38
gnomAD pLI
0.6
gnomAD missense Z
-0.15
DepMap mean gene effect
-0.07
DepMap dependency class
selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EPAS1 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 EPAS1 as an antibody target. Whether an autoantibody or antibody against EPAS1 could matter depends on whether native EPAS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EPAS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EPAS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EPAS1. 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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