Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: EPAS1 (endothelial PAS domain protein 1) Homo sapiens
Symbol: EPAS1
Name: endothelial PAS domain protein 1
Description: Exhibits several functions, including histone acetyltransferase binding activity; protein heterodimerization activity; and transcription factor binding activity. Contributes to sequence-specific DNA binding activity. Involved in cellular response to hypoxia and positive regulation of transcription by RNA polymerase II. Localizes to transcription factor complex. Implicated in familial erythrocytosis 4; lung non-small cell carcinoma; polycythemia; and pulmonary hypertension. Biomarker of osteoarthritis; pre-eclampsia; psoriasis; rheumatoid arthritis; and von Hippel-Lindau disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: basic-helix-loop-helix-PAS protein MOP2; bHLHe73; class E basic helix-loop-helix protein 73; ECYT4; endothelial PAS domain-containing protein 1; EPAS-1; HIF-1-alpha-like factor; HIF-1alpha-like factor; HIF-2-alpha; HIF2-alpha; HIF2A; HLF; hypoxia-inducible factor 2 alpha; hypoxia-inducible factor 2-alpha; member of PAS protein 2; MOP2; PAS domain-containing protein 2; PASD2
Mus musculus (house mouse) : Epas1 (endothelial PAS domain protein 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Epas1 (endothelial PAS domain protein 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Epas1 (endothelial PAS domain protein 1)
Pan paniscus (bonobo/pygmy chimpanzee) : EPAS1 (endothelial PAS domain protein 1)
Canis lupus familiaris (dog) : EPAS1 (endothelial PAS domain protein 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Epas1 (endothelial PAS domain protein 1)
Sus scrofa (pig) : EPAS1 (endothelial PAS domain protein 1)
Chlorocebus sabaeus (African green monkey) : EPAS1 (endothelial PAS domain protein 1)
Heterocephalus glaber (naked mole-rat) : Epas1 (endothelial PAS domain protein 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38 Ensembl246,293,667 - 46,386,697 (+)EnsemblGRCh38hg38GRCh38
GRCh38246,297,407 - 46,386,697 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37246,524,541 - 46,613,842 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36246,378,067 - 46,467,340 (+)NCBINCBI36hg18NCBI36
Build 34246,436,213 - 46,525,486NCBI
Celera246,363,267 - 46,452,583 (+)NCBI
Cytogenetic Map2p21NCBI
HuRef246,262,570 - 46,351,445 (+)NCBIHuRef
CHM1_1246,455,122 - 46,544,416 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on EPAS1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 68594
Created: 2001-07-11
Species: Homo sapiens
Last Modified: 2020-04-28
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.