EPAS1, Official Symbol EPAS1provided by HGNC Official Full Name endothelial PAS domain protein 1provided by HGNC Primary source HGNC:HGNC:3374 See related Ensembl:ENSG00000116016 MIM:603349; AllianceGenome:HGNC:3374 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HLF; MOP2; ECYT4; HIF2A; PASD2; bHLHe73 Summary 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] Expression Broad expression in lung (RPKM 304.3), placenta (RPKM 244.1) and 22 other tissues See more Orthologs mouse all