Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2034
Gene name Gene Name - the full gene name approved by the HGNC.
Endothelial PAS domain protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPAS1
Synonyms (NCBI Gene) Gene synonyms aliases
ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p21
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137853036 G>A,T Pathogenic Coding sequence variant, missense variant
rs137853037 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006962 hsa-miR-185-5p Luciferase reporter assay, qRT-PCR 22745131
MIRT006962 hsa-miR-185-5p Luciferase reporter assay, qRT-PCR 22745131
MIRT053030 hsa-miR-145-5p Luciferase reporter assay, qRT-PCR, Western blot 23222716
MIRT053030 hsa-miR-145-5p Luciferase reporter assay, qRT-PCR, Western blot 23222716
MIRT438161 hsa-miR-17-5p Luciferase reporter assay 24194900
Transcription factors
Transcription factor Regulation Reference
HIF3A Unknown 19755485
HOXA1 Unknown 17213808
RELA Activation 20495570
STAT3 Unknown 23991099
USF2 Unknown 23991099
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603349 3374 ENSG00000116016
Protein
UniProt ID Q99814
Protein name 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 P
Protein function Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulate
PDB 1P97 , 2A24 , 3F1N , 3F1O , 3F1P , 3H7W , 3H82 , 4GHI , 4GS9 , 4PKY , 4XT2 , 5KIZ , 5TBM , 5UFP , 6BVB , 6CZW , 6D09 , 6D0B , 6D0C , 6I7Q , 6I7R , 6X21 , 6X28 , 6X2H , 6X37 , 6X3D , 7Q5V , 7Q5X , 7UJV , 8CK3 , 8CK4 , 8CK8 , 8Q5S , 8Q64 , 8Q6D , 8Q6E , 8RUT , 8RUV , 8RUZ , 8RV1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00989 PAS 85 183 PAS fold Domain
PF08447 PAS_3 254 341 PAS fold Domain
PF11413 HIF-1 517 549 Hypoxia-inducible factor-1 Family
PF08778 HIF-1a_CTAD 833 869 HIF-1 alpha C terminal transactivation domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in most tissues, with highest levels in placenta, lung and heart. Selectively expressed in endothelial cells.
Sequence
MTADKEKKRSSSERRKEKSRDAARCRRSKETEVFYELAHELPLPHSVSSHLDKASIMRLA
ISFLRTHKLLSSVCSENESEAEADQQMDNLYLKALEGFIAVVTQDGDMIFLSENISKFMG
LTQVELTGHSIFDFTHPCDHEEIRENLSLKNGSGFGKKSKDMSTERDFFMRMKCTVTNRG
RTV
NLKSATWKVLHCTGQVKVYNNCPPHNSLCGYKEPLLSCLIIMCEPIQHPSHMDIPLD
SKTFLSRHSMDMKFTYCDDRITELIGYHPEELLGRSAYEFYHALDSENMTKSHQNLCTKG
QVVSGQYRMLAKHGGYVWLETQGTVIYNPRNLQPQCIMCVN
YVLSEIEKNDVVFSMDQTE
SLFKPHLMAMNSIFDSSGKGAVSEKSNFLFTKLKEEPEELAQLAPTPGDAIISLDFGNQN
FEESSAYGKAILPPSQPWATELRSHSTQSEAGSLPAFTVPQAAAPGSTTPSATSSSSSCS
TPNSPEDYYTSLDNDLKIEVIEKLFAMDTEAKDQCSTQTDFNELDLETLAPYIPMDGEDF
QLSPICPEE
RLLAENPQSTPQHCFSAMTNIFQPLAPVAPHSPFLLDKFQQQLESKKTEPE
HRPMSSIFFDAGSKASLPPCCGQASTPLSSMGGRSNTQWPPDPPLHFGPTKWAVGDQRTE
FLGAAPLGPPVSPPHVSTFKTRSAKGFGARGPDVLSPAMVALSNKLKLKRQLEYEEQAFQ
DLSGGDPPGGSTSHLMWKRMKNLRGGSCPLMPDKPLSANVPNDKFTQNPMRGLGHPLRHL
PLPQPPSAISPGENSKSRFPPQCYATQYQDYSLSSAHKVSGMASRLLGPSFESYLLPELT
RYDCEVNVPVLGSSTLLQGGDLLRALDQA
T
Sequence length 870
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  HIF-1 signaling pathway
Pathways in cancer
Renal cell carcinoma
  Regulation of gene expression by Hypoxia-inducible Factor
Cellular response to hypoxia
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Transcriptional regulation of pluripotent stem cells
PTK6 Expression
Neddylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Erythrocytosis erythrocytosis, familial, 4 rs137853036, rs137853037 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Polycythemia autosomal dominant secondary polycythemia N/A N/A GenCC
Renal Carcinoma Renal cell carcinoma N/A N/A GWAS
Sarcoidosis Sarcoidosis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 28653893
Adenocarcinoma of Lung Associate 25436804, 29859855, 31503425, 32708433, 40682067
Altitude Sickness Associate 26368009, 26625252, 27982053, 32470757, 32478477, 32718338, 39513938
Anemia Associate 16826581, 36500549
Anemia Sickle Cell Associate 37285480
Arnold Chiari Malformation Associate 31185588
Arthritis Juvenile Associate 18512817
Arthritis Rheumatoid Associate 12823854, 22488178, 35216458
Axial osteomalacia Stimulate 34698138
Breast Neoplasms Associate 21930697, 22452996, 22894905, 23631762, 24535905, 26825173, 26849233, 27001847, 27105516, 27323688, 27465550, 30670058, 31740625, 35301432, 35501580
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