Aliases for EPAS1 Gene
Aliases for EPAS1 Gene
External Ids for EPAS1 Gene
- HGNC: 3374
- Entrez Gene: 2034
- Ensembl: ENSG00000116016
- OMIM: 603349
- UniProtKB: 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 Sporadic Pheochromocytoma. Among its related pathways are Adipogenesis and HIF Repressor Pathways. 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 for EPAS1 Gene
-
Transcription factor involved in the induction of oxygen regulated genes. Binds to core DNA sequence 5-[AG]CGTG-3 within the hypoxia response element (HRE) of target gene promoters. 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 seems to require recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX seems to activate CTAD.
Additional gene information for EPAS1 Gene
- Monarch Initiative
- Search for EPAS1 at DataMed
- Search for EPAS1 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPAS1 Gene
Genomics for EPAS1 Gene
GeneHancer (GH) Regulatory Elements for EPAS1 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the EPAS1 gene promoter:
-
- PPAR-gamma2
- PPAR-gamma1
- Sp1
- HEN1
- HNF-1A
- IRF-1
- HNF-1
Regulatory Element Products
Genomic Locations for EPAS1 Gene
Genomic Locations for EPAS1 Gene
- chr2:46,293,667-46,386,703
- (GRCh38/hg38)
- Size:
- 93,037 bases
- Orientation:
- Plus strand
- chr2:46,520,806-46,613,842
- (GRCh37/hg19)
- Size:
- 93,037 bases
- Orientation:
- Plus strand
Genomic View for EPAS1 Gene
Genes around EPAS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p21 by Entrez Gene
- 2p21 by HGNC
- 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. Interacts with CREBBP (By similarity). Interacts with EGLN1. Interacts with VHL.
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:
Antibody Products
- R&D Systems Antibodies for EPAS1 (HIF-2 alpha/EPAS1)
-
Custom Antibody ServicesOriGene Antibodies for EPAS1
- Novus Biologicals Antibodies for EPAS1
-
Abcam antibodies for EPAS1
- Invitrogen Antibodies for EPAS1 (AFLGC-EPAS1)
- antibodies-online: Search results for 220 available EPAS1 Antibodies ranked by validation data
- Compare Top EPAS1 Antibodies
-
Recommended
- 169 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 3 FACS Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 80 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 FACS Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 68 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 FACS Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 2 IP Antibodies (anti-rat)
- GeneTex EPAS1 Antibody for EPAS1
-
Santa Cruz Biotechnology (SCBT) Antibodies for EPAS1
Protein Products
-
OriGene Purified Proteins for EPAS1
- Search Origene for MassSpec and Protein Over-expression Lysates for EPAS1
- Origene Custom Protein Services for EPAS1
- Search GeneTex for Proteins for EPAS1
-
Abcam proteins for EPAS1
Assay Products
- R&D Systems ELISAs, Proteome Profiler Antibody Arrays, and other biochemical assays for EPAS1 (HIF-2 alpha/EPAS1)
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
Suggested Antigen Peptide Sequences for EPAS1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for 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. Binds to core DNA sequence 5-[AG]CGTG-3 within the hypoxia response element (HRE) of target gene promoters. 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 seems to require recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX seems to activate CTAD.
Phenotypes From GWAS Catalog for EPAS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | NAS | 19274049 |
| GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0003677 | DNA binding | IGI | 9000051 |
| GO:0003700 | DNA binding transcription factor activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 11018023 |
Phenotypes for EPAS1 Gene
- MGI mutant phenotypes for EPAS1:
-
inferred from 9 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- pigmentation phenotype
- vision/eye phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- mortality/aging
- muscle phenotype
- liver/biliary system phenotype
- skeleton phenotype
- embryo phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for EPAS1:
-
- Decreased HIV-1 infection
- Decreased viability in esophageal squamous lineage
- Increased circadian period length
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- no effect
- Decreased viability after Maraba virus infection
- Increased viability
- Increased transferrin (TF) endocytosis
- Decreased shRNA abundance (Z-score < -2)
Animal Models for EPAS1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for EPAS1
-
CRISPR Products
-
OriGene CRISPR knockouts for EPAS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPAS1
- genomics-online: gRNA clones - Search results for 102 available EPAS1 gene related products
- Overview of 102 available EPAS1 gene related products
- Applied Biological Materials CRISPR for EPAS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPAS1
- GenScript: Design CRISPR guide RNA sequences for EPAS1
miRNA for EPAS1 Gene
- miRTarBase miRNAs that target EPAS1
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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 102 available EPAS1 gene related products
- Overview of 102 available EPAS1 gene related products
Clone Products
- 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
- Applied Biological Materials Clones for EPAS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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 |
| extracellular | 1 |
- Nucleoplasm (4)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IPI | 9576906 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
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 | Pathways in cancer | ||
| 5 | ErbB signaling pathway | ||
Pathways by source for EPAS1 Gene
1 GeneTex pathway 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
2 R&D Systems pathways for EPAS1 Gene
1 Cell Signaling Technology 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 | IDA,IEA | 11782478 |
| GO:0001892 | embryonic placenta development | IEA | -- |
| GO:0001974 | blood vessel remodeling | IEA | -- |
| GO:0002027 | regulation of heart rate | IEA | -- |
No data available for SIGNOR curated interactions for EPAS1 Gene
Transcripts for EPAS1 Gene
mRNA/cDNA for EPAS1 Gene
- (2) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (613) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000460015 558 bps (uc061iux.1)
- ENST00000449347 1067 bps (uc061iuy.1)
- ENST00000263734 5166 bps (uc002ruv.3)
- ENST00000467888 665 bps (uc061iuz.1)
- ENST00000475822 551 bps (uc061iva.1)
Unigene Clusters for EPAS1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for EPAS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPAS1
- genomics-online: gRNA clones - Search results for 102 available EPAS1 gene related products
- Overview of 102 available EPAS1 gene related products
- Applied Biological Materials CRISPR for EPAS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPAS1
- GenScript: Design CRISPR guide RNA sequences for EPAS1
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 102 available EPAS1 gene related products
- Overview of 102 available EPAS1 gene related products
Clone Products
- 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
- Applied Biological Materials Clones for EPAS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of EPAS1 Gene:
EPAS1SOURCE 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(4.7)
- Lung(4.6)
- Eye(4.5)
- Heart(3)
- Kidney(2.8)
- Liver(2.7)
- Adrenal gland(2.5)
- Muscle(2.5)
- Pancreas(2.4)
- Intestine(2.3)
- Skin(2)
- Thyroid gland(2)
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
-
OriGene qPCR primer pairs for EPAS1
-
OriGene qPCR primer pairs and template standards for EPAS1
- genomics-online: primer clones - Search results for 102 available EPAS1 gene related products
- Overview of 102 available EPAS1 gene related products
Gene Expression Assay Products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | EPAS1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | EPAS1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Epas1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Epas1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | EPAS1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | EPAS1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | EPAS1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EPAS1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | epas1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | epas1b 34 33 |
|
OneToMany | |
| epas1a 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | sima 34 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | hif-1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for EPAS1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
Paralogs for EPAS1 Gene
Paralogs for EPAS1 Gene
(4) SIMAP similar genes for EPAS1 Gene using alignment to 4 proteins:
- EPAS1_HUMAN
- C9J9N2_HUMAN
- Q53SM6_HUMAN
- Q53ST6_HUMAN
Variants for EPAS1 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1005983839 | uncertain-significance, Familial erythrocytosis | 46,386,487(+) | C/T | 3_prime_UTR_variant | |
| rs1010558050 | uncertain-significance, Familial erythrocytosis | 46,385,187(+) | G/T | 3_prime_UTR_variant | |
| rs10495933 | benign, Familial erythrocytosis | 46,385,513(+) | G/A | 3_prime_UTR_variant | |
| rs111426869 | likely-benign, Familial erythrocytosis | 46,385,701(+) | /G | 3_prime_UTR_variant | |
| rs112031193 | uncertain-significance, Familial erythrocytosis | 46,386,033(+) | C/A/G/T | 3_prime_UTR_variant |
| 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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPAS1 Gene
Disorders for EPAS1 Gene
(16) MalaCards diseases for EPAS1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| erythrocytosis, familial, 4 |
|
|
| sporadic pheochromocytoma |
|
|
| multiple paragangliomas associated with polycythemia |
|
|
| autosomal dominant secondary polycythemia |
|
|
| sporadic secreting paraganglioma |
|
|
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 increased serum red blood cell mass, 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 mutations affecting the gene represented in this entry.
Additional Disease Information for EPAS1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 44 58
- 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 58
- Genetic contributions to the development of retinopathy of prematurity. (PMID: 18787502) Mohamed S … Dagle JM (Pediatric research 2009) 3 22 44 58
- The EPAS1 gene influences the aerobic-anaerobic contribution in elite endurance athletes. (PMID: 16208515) Henderson J … Yu B (Human genetics 2005) 3 22 44 58
- Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells. (PMID: 9000051) Tian H … Russell DW (Genes & development 1997) 2 3 4 58
Products for EPAS1 Gene
- R&D Systems Antibodies for EPAS1 (HIF-2 alpha/EPAS1)
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- R&D Systems ELISAs, Proteome Profiler Antibody Arrays, and other biochemical assays for EPAS1 (HIF-2 alpha/EPAS1)
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- Custom Antibody ServicesOriGene Antibodies for EPAS1
- Browse OriGene ELISA Kits
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- OriGene Purified Proteins for EPAS1
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- Browse OriGene Inhibitory RNA Products For EPAS1
- OriGene qPCR primer pairs for EPAS1
- OriGene qPCR primer pairs and template standards for EPAS1
- OriGene CRISPR knockouts for EPAS1
- OriGene ORF clones in human for EPAS1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Design CRISPR guide RNA sequences for EPAS1
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- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for EPAS1
- Sino Biological Human cDNA Clone for EPAS1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for EPAS1
- Novus Biologicals lysates and proteins for EPAS1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for EPAS1
- Abcam proteins for EPAS1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for EPAS1 (AFLGC-EPAS1)
- Cyagen custom Knockout/knockin (KOKI) mouse models for EPAS1
- Addgene plasmids for EPAS1
- antibodies-online: Search results for 220 available EPAS1 Antibodies ranked by validation data
- Compare Top EPAS1 Antibodies
- Recommended
- 169 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 3 FACS Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 80 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 FACS Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 68 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 FACS Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 2 IP Antibodies (anti-rat)
- antibodies-online: Search results for 21 available EPAS1 Elisa Kits ranked by validation data
- Compare Top EPAS1 Elisa Kits
- antibodies-online: Search results for 10 available EPAS1 Proteins ranked by validation data
- Compare Top EPAS1 Proteins
- GeneTex EPAS1 Antibody for EPAS1
- Search GeneTex for Proteins for EPAS1
- Santa Cruz Biotechnology (SCBT) Antibodies for EPAS1
- Search Santa Cruz Biotechnology (SCBT) for EPAS1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for EPAS1
- Horizon Cell Lines for EPAS1
- genomics-online: cdna clones - Search results for 102 available EPAS1 gene related products
- Overview of 102 available EPAS1 gene related products
- orf clones - Search results for 102 available EPAS1 gene related products
- Overview of 102 available EPAS1 gene related products
- genomics-online: gRNA clones - Search results for 102 available EPAS1 gene related products
- Overview of 102 available EPAS1 gene related products
- genomics-online: primer clones - Search results for 102 available EPAS1 gene related products
- Overview of 102 available EPAS1 gene related products
- genomics-online: shRNA clones - Search results for 102 available EPAS1 gene related products
- Overview of 102 available EPAS1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPAS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPAS1
- GeneCopoeia miRNA 3'UTR Target clone products for EPAS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPAS1
Sources for EPAS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt