Disease-gene associations mined from literature

Literature associating EPAS1 and familial erythrocytosis 4

EPAS1 [ENSP00000263734]

Endothelial PAS domain-containing protein 1; 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 CREBBP and probably EP300. Interaction with redox regulatory protein APEX seems to activate CTAD; Basic helix-loop-helix proteins

Synonyms:  EPAS1,  EPAS1p,  hEPAS1,  B3KW07,  C9J9N2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM