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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
EPAS1 2034 endothelial PAS domain protein 1  2MOP2, PASD2, HIF2A, HLF, bHLHe73 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
24825851   2014Cell line : -

Source : Department of Medical Oncology, University Hospital Puerta de Hierro Majadahonda, E-28222 Madrid, Spain.

Sample Type : -

No. of Sample : -

Stage : TNM Stage I-IV

real time RT-PCR,Bisulfite DNA sequencingDown-regulation/Hypermethylation-EPAS1 mRNA was significantly reduced in primary colonic adenocarcinoma specimens compared with histopathologically nonneoplastic tissue from 120 patients.Bisulfite DNA sequencing and high-resolution melting analysis identified significant DNA hypermethylation in the EPAS1 regulatory region from cancerous tissue compared with nonneoplastic tissue.

22848255   2011Cell line : -

Source : Department of General and Colorectal Surgery, Poznan University of Medical Sciences, Poland.

Sample Type : -

No. of Sample : -

Stage : TNM Stage I-III

 real timeRT- PCRUp-regulation-EPAS1 mRNA levels may be an indicator of poor prognosis in colorectal cancer patients at advanced stages, obtained by a non-invasive method.


Gene Details



NC_000002.11 (46524541..46613842)

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Gene Type protein coding
Gene Family Basic helix-loop-helix proteins
Description 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]  
Chromosome 2
Location 2p21-p16
Start 46524541  
End 46613842  
Strand +  
Gene Sequence

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Length 89302  
OMIM ID 603349   
HGNC ID HGNC:3374   
Unigene ID Hs.468410   
Ensembl ID ENSG00000116016   
PharmGKB ID PA27809   

mRNA Information


mRNA ID NM_001430.4
Exon join(1..536,49472..49662,58750..58901,59323..59407, 63237..63355,63484..63689,72426..72532,78289..78436, 79138..79352,80493..80686,81256..81366,82826..83316, 84195..84321,84574..84688,85024..85197,87108..89302)  
mRNA Sequence

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Length 5184  



CDS Information


   
Location 511..3123
CDS Sequence

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CCDS ID CCDS1825.1



Protein Information


      
Protein IDNP_001421.2
Protein Nameendothelial PAS domain protein 1
Molecular Wt. (Da)96329
Protein Sequence

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Length 870  
Uniprot IDP41743
Ensembl Protein ID ENSP00000295797  



Post-translational Modification Information (Source : HPRD)


Residue Type site
TPhosphorylation324

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                                                                       
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
405ARNT524NP_001659.1in vitro;in vivo;yeast 2-hybrid9079689   
406ARNTL3973NP_001169.3in vivo;yeast 2-hybrid9576906   
2033EP3004078NP_001420.2in vitro;in vivo15261140   
3646EIF3E3734NP_001559.1in vivo;yeast 2-hybrid17324924   
4149MAX1113NP_002373.3in vivo17418410   
7428VHL1905NP_000542.1in vivo10823831   
54583EGLN16971NP_071334.1in vitro15474027   
112398EGLN26970NP_444274.1in vitro15474027   
112399EGLN36972NP_071356.1in vitro15474027   


Pathway Information


            
Pathway Name Pathway ID
Pathways in cancer hsa05200
Renal cell carcinoma hsa05211


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd00130241-340  PAS
cl21578241-340  PAS superfamily
cd00083Dec-68  HLH
cl00081Dec-68  HLH superfamily
cd0013097-147  PAS
cl2157897-147  PAS superfamily
pfam08778831-870  HIF-1a_CTAD
cl07403831-870  HIF-1a_CTAD superfamily
pfam11413516-550  HIF-1
cl12942516-550  HIF-1 superfamily
smart0009186-147  PAS
smart00091241-296  PAS
smart0035320-65  HLH
smart00086304-346  PAC
cl09965304-346  PAC superfamily
pfam14598244-346  PAS_11
pfam08447254-341  PAS_3
pfam13426249-340  PAS_9
pfam00989253-329  PAS
COG220298-328  PAS
TIGR0022999-161  sensory_box
TIGR00229253-327  sensory_box
pfam0098994-180  PAS


Ontology Information


   
HPRD ID1496
Molecular ClassTranscription factor
Molecular FunctionProtein serine/threonine kinase activity (GO:0004674)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO