Entrez gene ID | | 2034 |
Official gene symbol | | EPAS1 |
Full name | | endothelial PAS domain protein 1 |
Aliases | | ,ECYT4,HIF2A,HLF,MOP2,PASD2,bHLHe73, |
Gene 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] |
Location | | Chromosome: 2 Locus: 2p21-p16 |
Gene position | | 46524541 - 46613842 Map Viewer |
Gene orientation | | plus |
Gene size | | 89302 bp |
Gene sequence |
| |
OMIM ID | | 603349 |