EPAS1
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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:603349 Ensembl IDEnsembl:ENSG00000116016 HGNC IDHGNC:HGNC:3374 PHARMGKB IDPA27809 Map Location2p21 | |||||
GO terms in EPAS1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005667 | transcription factor complex |
| CC | IPI | GO:0005667 | transcription factor complex |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0016607 | nuclear speck |
Gene expression in normal tissue: EPAS1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in EPAS1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05211 | Renal cell carcinoma - Homo sapiens (human) |
| pid | hif2pathway | HIF-2-alpha transcription factor network |
| wikipathways | WP236 | Adipogenesis |
| wikipathways | WP2821 | Transcriptional regulation of pluripotent stem cells |
| wikipathways | WP3678 | Amplification and Expansion of Oncogenic Pathways as Metastatic Traits |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD397 | Pazopanib | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in EPAS1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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