Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EPAS1 (endothelial PAS domain protein 1)

Identity

Other namesECYT4
HIF2A
HLF
MOP2
PASD2
bHLHe73
HGNC (Hugo) EPAS1
LocusID (NCBI) 2034
Location 2p21
Location_base_pair Starts at 46524541 and ends at 46613842 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)EPAS1   3374
Cards
Entrez_Gene (NCBI)EPAS1  2034  endothelial PAS domain protein 1
GeneCards (Weizmann)EPAS1
Ensembl (Hinxton)ENSG00000116016 [Gene_View]  chr2:46524541-46613842 [Contig_View]  EPAS1 [Vega]
AceView (NCBI)EPAS1
Genatlas (Paris)EPAS1
WikiGenes2034
SOURCE (Princeton)NM_001430
Genomic and cartography
GoldenPath (UCSC)EPAS1  -  2p21   chr2:46524541-46613842 +  2p21   [Description]    (hg19-Feb_2009)
EnsemblEPAS1 - 2p21 [CytoView]
Mapping of homologs : NCBIEPAS1 [Mapview]
OMIM603349   611783   
Gene and transcription
Genbank (Entrez)AF052094 AK123845 BC015869 BC051338 BM671511
RefSeq transcript (Entrez)NM_001430
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_016000 NT_022184 NW_001838769 NW_004929300
Consensus coding sequences : CCDS (NCBI)EPAS1
Cluster EST : UnigeneHs.468410 [ NCBI ]
CGAP (NCI)Hs.468410
Alternative Splicing : Fast-db (Paris)GSHG0016433
Alternative Splicing GalleryENSG00000116016
Gene ExpressionEPAS1 [ NCBI-GEO ]     EPAS1 [ SEEK ]   EPAS1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99814 (Uniprot)
NextProtQ99814  [Medical]
With graphics : InterProQ99814
Splice isoforms : SwissVarQ99814 (Swissvar)
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    PAC (PS50113)    PAS (PS50112)   
Domains : Interpro (EBI)bHLH_dom    HIF-1_TAD_C    HIF_alpha_subunit    Nuc_translocat    PAC    PAS    PAS_fold   
Related proteins : CluSTrQ99814
Domain families : Pfam (Sanger)HIF-1 (PF11413)    HIF-1a_CTAD (PF08778)    PAS (PF00989)   
Domain families : Pfam (NCBI)pfam11413    pfam08778    pfam00989   
Domain families : Smart (EMBL)HLH (SM00353)  PAC (SM00086)  PAS (SM00091)  
DMDM Disease mutations2034
Blocks (Seattle)Q99814
PDB (SRS)1P97    2A24    3F1N    3F1O    3F1P    3H7W    3H82    4GHI    4GS9   
PDB (PDBSum)1P97    2A24    3F1N    3F1O    3F1P    3H7W    3H82    4GHI    4GS9   
PDB (IMB)1P97    2A24    3F1N    3F1O    3F1P    3H7W    3H82    4GHI    4GS9   
PDB (RSDB)1P97    2A24    3F1N    3F1O    3F1P    3H7W    3H82    4GHI    4GS9   
Human Protein AtlasENSG00000116016
Peptide AtlasQ99814
HPRD06787
IPIIPI00294084   IPI00917611   
Protein Interaction databases
DIP (DOE-UCLA)Q99814
IntAct (EBI)Q99814
FunCoupENSG00000116016
BioGRIDEPAS1
InParanoidQ99814
Interologous Interaction database Q99814
IntegromeDBEPAS1
STRING (EMBL)EPAS1
Ontologies - Pathways
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  angiogenesis  response to hypoxia  embryonic placenta development  blood vessel remodeling  regulation of heart rate  DNA binding  signal transducer activity  protein binding  nucleoplasm  transcription factor complex  transcription factor complex  cytosol  transcription from RNA polymerase II promoter  mitochondrion organization  signal transduction  visual perception  transcription factor binding  erythrocyte differentiation  lung development  histone acetyltransferase binding  norepinephrine metabolic process  surfactant homeostasis  sequence-specific DNA binding  regulation of transcription from RNA polymerase II promoter in response to oxidative stress  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  cell maturation  myoblast fate commitment  regulation of transcription from RNA polymerase II promoter in response to hypoxia  cellular response to hypoxia  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  angiogenesis  response to hypoxia  embryonic placenta development  blood vessel remodeling  regulation of heart rate  DNA binding  signal transducer activity  protein binding  nucleoplasm  transcription factor complex  transcription factor complex  cytosol  transcription from RNA polymerase II promoter  mitochondrion organization  signal transduction  visual perception  transcription factor binding  erythrocyte differentiation  lung development  histone acetyltransferase binding  norepinephrine metabolic process  surfactant homeostasis  sequence-specific DNA binding  regulation of transcription from RNA polymerase II promoter in response to oxidative stress  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  cell maturation  myoblast fate commitment  regulation of transcription from RNA polymerase II promoter in response to hypoxia  cellular response to hypoxia  
Pathways : KEGGPathways in cancer    Renal cell carcinoma   
REACTOMEEPAS1
Protein Interaction DatabaseEPAS1
Wikipedia pathwaysEPAS1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EPAS1
SNP (GeneSNP Utah)EPAS1
SNP : HGBaseEPAS1
Genetic variants : HAPMAPEPAS1
1000_GenomesEPAS1 
ICGC programENSG00000116016 
Somatic Mutations in Cancer : COSMICEPAS1 
CONAN: Copy Number AnalysisEPAS1 
Mutations and Diseases : HGMDEPAS1
OMIM603349    611783   
GENETestsEPAS1
Disease Genetic AssociationEPAS1
Huge Navigator EPAS1 [HugePedia]  EPAS1 [HugeCancerGEM]
Genomic VariantsEPAS1  EPAS1 [DGVbeta]
Exome VariantEPAS1
dbVarEPAS1
ClinVarEPAS1
snp3D : Map Gene to Disease2034
General knowledge
Homologs : HomoloGeneEPAS1
Homology/Alignments : Family Browser (UCSC)EPAS1
Phylogenetic Trees/Animal Genes : TreeFamEPAS1
Chemical/Protein Interactions : CTD2034
Chemical/Pharm GKB GenePA27809
Clinical trialEPAS1
Cancer Resource (Charite)ENSG00000116016
Other databases
Probes
Litterature
PubMed256 Pubmed reference(s) in Entrez
CoreMineEPAS1
iHOPEPAS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Mar 31 09:14:34 CEST 2014

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