Gene Gene information from NCBI Gene database.
Entrez ID 2034
Gene name Endothelial PAS domain protein 1
Gene symbol EPAS1
Synonyms (NCBI Gene)
ECYT4HIF2AHLFMOP2PASD2bHLHe73
Chromosome 2
Chromosome location 2p21
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
SNPs SNP information provided by dbSNP.
2
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.
693
miRTarBase ID miRNA Experiments Reference
MIRT006962 hsa-miR-185-5p Luciferase reporter assayqRT-PCR 22745131
MIRT006962 hsa-miR-185-5p Luciferase reporter assayqRT-PCR 22745131
MIRT053030 hsa-miR-145-5p Luciferase reporter assayqRT-PCRWestern blot 23222716
MIRT053030 hsa-miR-145-5p Luciferase reporter assayqRT-PCRWestern blot 23222716
MIRT438161 hsa-miR-17-5p Luciferase reporter assay 24194900
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
HIF3A Unknown 19755485
HOXA1 Unknown 17213808
RELA Activation 20495570
STAT3 Unknown 23991099
USF2 Unknown 23991099
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
70
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603349 3374 ENSG00000116016
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
247
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Erythrocytosis, familial, 4 Pathogenic; Likely pathogenic rs2103672173, rs137853036, rs137853037, rs2546476675 RCV002273011
RCV000006841
RCV000006842
RCV000006843
RCV003615814
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Asphyxiating thoracic dystrophy 3 Conflicting classifications of pathogenicity rs752805685 RCV005863688
Cervical cancer Benign; Likely benign rs17035085, rs75591953 RCV005919408
RCV005896191
Cholangiocarcinoma Benign rs17035085, rs7583392, rs17035079 RCV005919412
RCV005915486
RCV005896202
EPAS1-related disorder Likely benign; Conflicting classifications of pathogenicity; drug response; Benign rs141452072, rs149994721, rs7557402, rs35606117, rs1553394876, rs150877473, rs59901247, rs61518065, rs141537861, rs564869067, rs377197070, rs66811540, rs138622780 RCV003971297
RCV003957736
RCV003972423
RCV003912415
RCV003912414
RCV003910298
RCV003969966
RCV003912416
RCV003956518
RCV003959372
RCV003936914
RCV003978945
RCV003950465
Associations from Text MiningDisease 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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