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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 erythrocy... See more...
Aliases for EPAS1 Gene
Aliases for EPAS1 Gene
External Ids for EPAS1 Gene
- HGNC: 3374
- NCBI Entrez Gene: 2034
- Ensembl: ENSG00000116016
- OMIM®: 603349
- UniProtKB/Swiss-Prot: Q99814
Previous GeneCards Identifiers for EPAS1 Gene
- GC02P046542
- GC02P046693
- GC02P046499
- GC02P046436
- GC02P046262
Summaries for EPAS1 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 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]
GeneCards Summary for EPAS1 Gene
EPAS1 (Endothelial PAS Domain Protein 1) is a Protein Coding gene. Diseases associated with EPAS1 include Erythrocytosis, Familial, 4 and Autosomal Dominant Secondary Polycythemia. Among its related pathways are Immune response IL-23 signaling pathway and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is HIF1A.
UniProtKB/Swiss-Prot Summary for EPAS1 Gene
-
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). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX seems to activate CTAD (By similarity).
Additional gene information for EPAS1 Gene
No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPAS1 Gene
Genomics for EPAS1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for EPAS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around EPAS1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPAS1
- Top Transcription factor binding sites by QIAGEN in the EPAS1 gene promoter:
-
- HEN1
- HNF-1
- HNF-1A
- IRF-1
- PPAR-gamma1
- PPAR-gamma2
- Sp1
Genomic Locations for EPAS1 Gene
Latest Assembly
- chr2:46,293,667-46,386,697
- (GRCh38/hg38)
- Size:
- 93,031 bases
- Orientation:
- Plus strand
Previous Assembly
- chr2:46,524,546-46,613,836
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 89,291 bases
- Orientation:
- Plus strand
Genomic View for EPAS1 Gene
Genes around EPAS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p21 by HGNC
- 2p21 by Entrez Gene
- 2p21 by Ensembl
EPAS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EPAS1 Gene
Proteins for EPAS1 Gene
-
Protein details for EPAS1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99814-EPAS1_HUMAN
- Recommended name:
- Endothelial PAS domain-containing protein 1
- Protein Accession:
- Q99814
- Q86VA2
- Q99630
Protein attributes for EPAS1 Gene
- Size:
- 870 amino acids
- Molecular mass:
- 96459 Da
- Quaternary structure:
-
- Interacts with HIF3A (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (PubMed:16181639). Interacts with CREBBP (By similarity). Interacts with EGLN1. Interacts with VHL (PubMed:19208626).
Protein Expression for EPAS1 Gene
Post-translational modifications for EPAS1 Gene
- In normoxia, is probably hydroxylated on Pro-405 and Pro-531 by EGLN1/PHD1, EGLN2/PHD2 and/or EGLN3/PHD3. The hydroxylated prolines promote interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation. Under hypoxia, proline hydroxylation is impaired and ubiquitination is attenuated, resulting in stabilization (By similarity).
- In normoxia, is hydroxylated on Asn-847 by HIF1AN thus probably abrogating interaction with CREBBP and EP300 and preventing transcriptional activation.
- Phosphorylated on multiple sites in the CTAD.
- The iron and 2-oxoglutarate dependent 3-hydroxylation of asparagine is (S) stereospecific within HIF CTAD domains.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for EPAS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences HIF2A / EPAS1 Antibody and HIF2A / EPAS1 Monoclonal Antibody
- G Biosciences Immunotag™ HIF-2-alpha Antibody
- GeneTex Anti-HIF2 alpha antibody [GT125]
- Novus Biologicals Antibodies for EPAS1
-
Abcam antibodies for EPAS1
- Invitrogen Antibodies for EPAS1 (AFLGC-EPAS1)
- antibodies-online: Show 83 available EPAS1 Antibodies ranked by validation data
- Compare Top EPAS1 Antibodies
-
Recommended
- 192 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 3 FACS Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 107 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 FACS Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 71 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 3 FACS Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for EPAS1
Protein products for research
-
OriGene Purified Proteins for EPAS1
- Search Origene for MassSpec and Protein Over-expression Lysates for EPAS1
- Origene Custom Protein Services for EPAS1
-
Abcam proteins for EPAS1
Assay products for research
- antibodies-online: Show 30 available EPAS1 Elisa Kits ranked by validation data
- Compare Top EPAS1 Elisa Kits
-
Quality Products:
- ABIN419150
- ABIN1570300
- ABIN5520500
- ABIN4993499
- ABIN5526793
- ABIN579031
- ABIN5592021
- ABIN5655239
- ABIN2534645
- ABIN6204176
- ABIN426617
- ABIN1570301
- ABIN5520501
- ABIN5519204
- ABIN5655240
- ABIN2534646
- ABIN6204179
- ABIN6204178
- ABIN1131891
- ABIN433703
- ABIN5526794
- ABIN1570302
- ABIN5655241
- ABIN2534647
- ABIN6204181
- ABIN6204180
- ABIN1131892
No data available for DME Specific Peptides for EPAS1 Gene
Domains & Families for EPAS1 Gene
Gene Families for EPAS1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for EPAS1 Gene
- InterPro:
- Blocks:
-
- PAS domain
- Nuclear translocator signature
- Basic helix-loop-helix dimerization domain bHLH
- PAS fold-3
Suggested Antigen Peptide Sequences for EPAS1 Gene
- GenScript: Design optimal peptide antigens:
-
- PAS domain-containing protein 2 (EPAS1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EPAS1 Gene
Function for EPAS1 Gene
Molecular function for EPAS1 Gene
- UniProtKB/Swiss-Prot 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). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX seems to activate CTAD (By similarity).
Phenotypes From GWAS Catalog for EPAS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
| GO:0000987 | proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
Phenotypes for EPAS1 Gene
- MGI mutant phenotypes for EPAS1:
-
inferred from 10 alleles
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cardiovascular system phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- liver/biliary system phenotype
- hematopoietic system phenotype
- vision/eye phenotype
- skeleton phenotype
- embryo phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for EPAS1:
-
- no effect
- Decreased viability after Maraba virus infection
- Decreased viability in esophageal squamous lineage
- Increased viability
- Increased shRNA abundance (Z-score > 2)
- Increased circadian period length
- Decreased shRNA abundance (Z-score < -2)
- Decreased epidermal growth factor (EGF) endocytosis, increased transferrin (TF) endocytosis
- Decreased HIV-1 infection
Animal Models for EPAS1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EPAS1 - Starting at $85 >
- * EPAS1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EPAS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPAS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPAS1
miRNA for EPAS1 Gene
- miRTarBase miRNAs that target EPAS1
-
- hsa-miR-185-5p (MIRT006962)
- mmu-miR-362-5p (MIRT008865)
- mmu-miR-9-5p (MIRT015195)
- hsa-miR-145-5p (MIRT053030)
- hsa-miR-20a-5p (MIRT438160)
- hsa-miR-17-5p (MIRT438161)
- hsa-miR-6763-3p (MIRT500127)
- hsa-miR-4758-3p (MIRT500128)
- hsa-miR-7108-3p (MIRT500129)
- mmu-miR-741-3p (MIRT583764)
- mmu-miR-703 (MIRT583765)
- mmu-miR-1892 (MIRT583766)
- mmu-miR-5120 (MIRT583767)
- mmu-miR-466n-5p (MIRT592744)
- mmu-miR-669m-5p (MIRT592745)
- mmu-miR-466h-5p (MIRT592746)
- mmu-miR-466j (MIRT592747)
- mmu-miR-466m-5p (MIRT592748)
- mmu-miR-466l-5p (MIRT605760)
- mmu-miR-466d-5p (MIRT605761)
- mmu-miR-466k (MIRT605762)
- mmu-miR-466i-5p (MIRT605763)
- mmu-miR-1198-5p (MIRT605764)
- mmu-miR-511-3p (MIRT605765)
- mmu-miR-466a-5p (MIRT605766)
- mmu-miR-466p-5p (MIRT605767)
- mmu-miR-1187 (MIRT605768)
- mmu-miR-466e-5p (MIRT605769)
- mmu-miR-148a-3p (MIRT731932)
Transcription Factor Targets for EPAS1 Gene
Targeted motifs for EPAS1 Gene
HOMER Transcription Factor Regulatory Elements motif EPAS1
- Consensus sequence: GCACGTACCC Submotif: canonical Cell Type: 785_O GEO ID: GSE34871
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPAS1
- Browse OriGene Inhibitory RNA Products For EPAS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPAS1
Clone products for research
- Applied Biological Materials (abm): Clones for EPAS1 - Starting at $45 >
- * EPAS1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EPAS1
- Addgene plasmids for EPAS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPAS1
Cell Lines for research
-
Horizon Cell Lines for EPAS1
No data available for Enzyme Numbers (IUBMB) for EPAS1 Gene
Localization for EPAS1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EPAS1 Gene
- Nucleus. Nucleus speckle. Note=Colocalizes with HIF3A in the nucleus and speckles. {ECO:0000250 UniProtKB:P97481}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (4)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | ISA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IPI | 9576906 |
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for EPAS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | CDK-mediated phosphorylation and removal of Cdc6 | ||
| 2 | HIF Repressor Pathways | ||
| 3 | Signaling by PTK6 |
.01
|
|
| 4 | Translational Control | ||
| 5 | Pathways in cancer | ||
Pathways by source for EPAS1 Gene
4 BioSystems pathways for EPAS1 Gene
11 Reactome pathways for EPAS1 Gene
2 KEGG pathways for EPAS1 Gene
1 GeneGo (Thomson Reuters) pathway for EPAS1 Gene
- Development Angiopoietin - Tie2 signaling
2 R&D Systems pathways for EPAS1 Gene
1 Cell Signaling Technology pathway for EPAS1 Gene
1 GeneTex pathway for EPAS1 Gene
Interacting Proteins for EPAS1 Gene
Selected Interacting proteins:
Q99814-EPAS1_HUMAN
ENSP00000263734
for EPAS1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for EPAS1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001525 | angiogenesis | IEA | -- |
| GO:0001666 | response to hypoxia | IEA,IDA | 11782478 |
| GO:0001892 | embryonic placenta development | IEA | -- |
| GO:0001974 | blood vessel remodeling | IEA | -- |
| GO:0002027 | regulation of heart rate | IEA | -- |
Drugs & Compounds for EPAS1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| PT2977 | Investigational | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for EPAS1 Gene
mRNA/cDNA for EPAS1 Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000263734 5155 nts (view in UCSC)
- ENST00000449347 1067 nts (view in UCSC)
- ENST00000460015 558 nts (view in UCSC)
- ENST00000463191 559 nts (view in UCSC)
- ENST00000465318 741 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EPAS1 - Starting at $85 >
- * EPAS1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EPAS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPAS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPAS1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPAS1
- Browse OriGene Inhibitory RNA Products For EPAS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPAS1
Clone products for research
- Applied Biological Materials (abm): Clones for EPAS1 - Starting at $45 >
- * EPAS1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EPAS1
- Addgene plasmids for EPAS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPAS1
Relevant External Links for EPAS1 Gene
- GeneLoc Exon Structure for
- EPAS1
Expression for EPAS1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
- Endothelium (Cardiovascular System)
- NULL (Uncategorized)
-
Heart (Cardiovascular System)
- Endocardial Cells Endocardium
- Placenta (Extraembryonic Tissues)
- Liver (Hepatobiliary System)
- Epidermis (Integumentary System)
- Hair
- Trophoblast (Extraembryonic Tissues)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for EPAS1 Gene
This gene is overexpressed in Lung (x5.2).
This gene is overexpressed in Placenta (65.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPAS1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPAS1
SOURCE GeneReport for Unigene cluster for EPAS1 Gene:
Hs.468410mRNA Expression by UniProt/SwissProt for EPAS1 Gene:
Q99814-EPAS1_HUMAN
Tissue specificity:
Expressed in most tissues, with highest levels in placenta, lung and heart. Selectively expressed in endothelial cells.
Evidence on tissue expression from TISSUES for EPAS1 Gene
- Nervous system(4.8)
- Eye(4.6)
- Lung(4.6)
- Heart(3.3)
- Kidney(3.2)
- Liver(3.1)
- Skin(3.1)
- Pancreas(3)
- Muscle(3)
- Intestine(2.9)
- Adrenal gland(2.8)
- Thyroid gland(2.7)
- Spleen(2.5)
- Lymph node(2.5)
- Blood(2.3)
- Bone(2.2)
- Stomach(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for EPAS1 Gene
Germ Layers:
- mesoderm
Systems:
- cardiovascular
Regions:
Head and neck:
- ear
Thorax:
- heart
General:
- blood
- blood vessel
- red blood cell
Primer products for research
-
OriGene qPCR primer pairs for EPAS1
-
OriGene qPCR primer pairs and template standards for EPAS1
Gene Expression Assays for research
Orthologs for EPAS1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | EPAS1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EPAS1 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | EPAS1 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Epas1 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Epas1 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | EPAS1 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | EPAS1 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | EPAS1 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EPAS1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | epas1 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | epas1b 29 30 |
|
OneToMany | |
| epas1a 30 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | sima 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | hif-1 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for EPAS1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for EPAS1 Gene
- ENSEMBL:
- Gene Tree for EPAS1 (if available)
- TreeFam:
- Gene Tree for EPAS1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for EPAS1: view image
- Alliance of Genome Resources:
- Additional Orthologs for EPAS1
Paralogs for EPAS1 Gene
Variants for EPAS1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPAS1 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 894839 | Benign: Erythrocytosis, familial, 4 | 46,385,502(+) |
A/C NM_001430.5(EPAS1):c.*842A>C |
THREE_PRIME_UTR | |
| 894840 | Uncertain Significance: Erythrocytosis, familial, 4 | 46,385,558(+) |
C/T NM_001430.5(EPAS1):c.*898C>T |
THREE_PRIME_UTR | |
| 894907 | Uncertain Significance: Erythrocytosis, familial, 4 | 46,386,577(+) |
G/A NM_001430.5(EPAS1):c.*1917G>A |
THREE_PRIME_UTR | |
| 895789 | Uncertain Significance: Erythrocytosis, familial, 4 | 46,297,511(+) |
G/A NM_001430.5(EPAS1):c.-401G>A |
FIVE_PRIME_UTR | |
| 895790 | Uncertain Significance: Erythrocytosis, familial, 4 | 46,297,555(+) |
G/C NM_001430.5(EPAS1):c.-357G>C |
FIVE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv149e55 | CNV | loss | 17911159 |
| esv2759046 | CNV | loss | 17122850 |
| esv3583779 | CNV | loss | 25503493 |
| nsv1132485 | CNV | duplication | 24896259 |
| nsv2714 | CNV | insertion | 18451855 |
| nsv581743 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
23.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.46;
64.15% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EPAS1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPAS1 Gene
Disorders for EPAS1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| erythrocytosis, familial, 4 |
|
|
| autosomal dominant secondary polycythemia |
|
|
| multiple paragangliomas associated with polycythemia |
|
|
| sporadic pheochromocytoma/secreting paraganglioma |
|
|
| hypoxia |
|
|
Search EPAS1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
EPAS1_HUMAN- Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]: An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts. {ECO:0000269 PubMed:18184961, ECO:0000269 PubMed:18378852, ECO:0000269 PubMed:19208626, ECO:0000269 PubMed:22367913}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for EPAS1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for EPAS1 Gene
Publications for EPAS1 Gene
- Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. (PMID: 18378852) Percy MJ … Lee FS (Blood 2008) 2 3 4 22 40 72
- Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway. (PMID: 9079689) Hogenesch JB … Bradfield CA (The Journal of biological chemistry 1997) 2 3 4 22
- Genetic contributions to the development of retinopathy of prematurity. (PMID: 18787502) Mohamed S … Dagle JM (Pediatric research 2009) 3 22 40
- Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. (PMID: 19208626) Furlow PW … Lee FS (The Journal of biological chemistry 2009) 3 4 72
- A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. (PMID: 18184961) Percy MJ … Lee FS (The New England journal of medicine 2008) 4 22 72
ExternalLinks
Products for EPAS1 Gene
- View all 7 R&D Systems EPAS1 (HIF-2 alpha/EPAS1) Products
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- antibodies-online: Show 83 available EPAS1 Antibodies ranked by validation data
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Sources for EPAS1 Gene
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