| Gene Symbol | EPAS1 |
|---|---|
| Entrez Gene | 2034 |
| Alt Symbol | ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73 |
| Species | Human |
| Gene Type | protein-coding |
| Description | endothelial PAS domain protein 1 |
| Other Description | EPAS-1|HIF-1-alpha-like factor|HIF-1alpha-like factor|HIF-2-alpha|HIF2-alpha|PAS domain-containing protein 2|basic-helix-loop-helix-PAS protein MOP2|class E basic helix-loop-helix protein 73|endothelial PAS domain-containing protein 1|hypoxia-inducible factor 2 alpha|hypoxia-inducible factor 2-alpha|member of PAS protein 2 |
| Swissprots | Q99630 Q86VA2 Q99814 |
| Accessions | AAX93237 AAY14704 EAX00255 Q99814 AF052094 AK123845 BAG53969 BC015869 BC051338 AAH51338 BM671511 CD109908 U51626 AAC51212 U81984 AAB41495 XM_011532698 XP_011531000 NM_001430 NP_001421 |
| Function | Transcription factor involved in the induction of oxygen regulated genes. Binds to core DNA sequence 5'-[AG]CGTG-3' within the hypoxia response element (HRE) of target gene promoters. Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation seems to require recruitment of transcriptional coactivators such as CREBPB and probably EP300. Interaction with redox regulatory protein APEX seems to activate CTAD. |
| Subcellular Location | Nucleus {ECO:0000250|UniProtKB:P97481, ECO:0000255|PROSITE-ProRule:PRU00981}. Nucleus speckle {ECO:0000250|UniProtKB:P97481}. Note=Colocalizes with HIF3A in the nucleus and speckles. {ECO:0000250|UniProtKB:P97481}. |
| Tissue Specificity | Expressed in most tissues, with highest levels in placenta, lung and heart. Selectively expressed in endothelial cells. |
| Top Pathways | Renal cell carcinoma |