| Gene Information | |
|---|---|
| Gene Name | BHLHE73 |
| Organism | Homo sapiens (Human) |
| Gene Length | 870 |
| Protein Names | Endothelial PAS domain-containing protein 1 (EPAS-1) (Basic-helix-loop-helix-PAS protein MOP2) (Class E basic helix-loop-helix protein 73) (bHLHe73) (HIF-1-alpha-like factor) (HLF) (Hypoxia-inducible factor 2-alpha) (HIF-2-alpha) (HIF2-alpha) (Member of PAS protein 2) (PAS domain-containing protein 2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q99814 |
| Gene Card | EPAS1 |
| Uniprot ID | Q99814 |
| Pfam | PF11413; PF08778; PF00989; PF08447 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in most tissues, with highest levels in placenta, lung and heart. Selectively expressed in endothelial cells. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.030769(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1P97 (NMR - ) 2A24 (NMR - ) 3F1N (X-ray 1.48A ) 3F1O (X-ray 1.60A ) 3F1P (X-ray 1.17A ) 3H7W (X-ray 1.65A ) 3H82 (X-ray 1.50A ) 4GHI (X-ray 1.50A ) 4GS9 (X-ray 1.72A ) 4PKY (X-ray 3.20A ) 4XT2 (X-ray 1.70A ) 5KIZ (NMR - ) 5TBM (X-ray 1.85A ) 5UFP (X-ray 1.90A ) 6BVB (X-ray 2.00A ) 6CZW (X-ray 1.60A ) 6D09 (X-ray 1.85A ) 6D0B (X-ray 1.60A ) 6D0C (X-ray 1.50A ) 6I7Q (X-ray 1.80A ) 6I7R (X-ray 1.95A ) 6X21 (X-ray 1.54A ) 6X28 (X-ray 1.92A ) 6X2H (X-ray 2.00A ) 6X37 (X-ray 1.94A ) 6X3D (X-ray 2.00A ) |
| DBSNP | rs137853037 rs137853036 rs137853036 rs59901247 rs61518065 |
| Subcellular location [CC] | 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}. |
| Mouse PG classification | NA |
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