{"symbol":"EPAS1","synonyms":["MOP2","HIF2A","ECYT4","HLF","BHLHE73","PASD2"],"name":"endothelial PAS domain protein 1","description":"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]","ncbiEntrezGeneId":2034,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2034","proteins":[{"symbol":"EPAS1_HUMAN","href":"/api/1.0/protein/EPAS1_HUMAN"}],"hgncRootFamilies":[{"name":"Basic helix-loop-helix proteins (BHLH)","href":"/api/1.0/gene_family/Basic+helix-loop-helix+proteins+%28BHLH%29"}]}