Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EGLN2 (egl nine homolog 2 (C. elegans))

Identity

Other namesEIT6
HIF-PH1
HIFPH1
HPH-1
HPH-3
PHD1
HGNC (Hugo) EGLN2
LocusID (NCBI) 112398
Location 19q13.2
Location_base_pair Starts at 41305334 and ends at 41314346 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)EGLN2   14660
Entrez_Gene (NCBI)EGLN2  112398  egl nine homolog 2 (C. elegans)
Cards
GeneCards (Weizmann)EGLN2
Ensembl (Hinxton)ENSG00000269858 [Gene_View]  chr19:41305334-41314346 [Contig_View]  EGLN2 [Vega]
AceView (NCBI)EGLN2
Genatlas (Paris)EGLN2
SOURCE (Stanford)NM_017555 NM_053046 NM_080732
Genomic and cartography
GoldenPath (UCSC)EGLN2  -  19q13.2   chr19:41305334-41314346 +  19q13.2   [Description]    (hg19-Feb_2009)
EnsemblEGLN2 - 19q13.2 [CytoView]
Mapping of homologs : NCBIEGLN2 [Mapview]
OMIM606424   
Gene and transcription
Genbank (Entrez)AA994838 AJ310544 AK025396 AK026863 AK074408
RefSeq transcript (SRS)NM_017555 NM_053046 NM_080732
RefSeq transcript (Entrez)NM_017555 NM_053046 NM_080732
RefSeq genomic (SRS)AC_000151 NC_000019 NC_018930 NT_011109 NW_001838496 NW_004078099
RefSeq genomic (Entrez)AC_000151 NC_000019 NC_018930 NT_011109 NW_001838496 NW_004078099
Consensus coding sequences : CCDS (NCBI)EGLN2
Cluster EST : UnigeneHs.730737 [ SRS ] Hs.730737 [ NCBI ]
CGAP (NCI)Hs.730737
Alternative Splicing : Fast-db (Paris)GSHG0014935
Alternative Splicing GalleryENSG00000269858
Gene ExpressionEGLN2 [ NCBI-GEO ]   EGLN2 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96KS0 (SRS) Q96KS0 (Uniprot)
NextProtQ96KS0
With graphics : InterProQ96KS0
Splice isoforms : SwissVarQ96KS0(Swissvar)
Domaine pattern : Prosite (SRS)FE2OG_OXY (PS51471)   
Domaine pattern : Prosite (Expaxy)FE2OG_OXY (PS51471)   
Domains : Interpro (SRS)Oxoglu/Fe-dep_dioxygenase    Pro_4_hyd_alph   
Domains : Interpro (EBI)Oxoglu/Fe-dep_dioxygenase    Pro_4_hyd_alph   
Related proteins : CluSTrQ96KS0
Domain families : Pfam (SRS)2OG-FeII_Oxy_3 (PF13640)   
Domain families : Pfam (Sanger)2OG-FeII_Oxy_3 (PF13640)   
Domain families : Pfam (NCBI)pfam13640   
Domain families : Smart (EMBL)P4Hc (SM00702)  
DMDM112398
Blocks (Seattle)Q96KS0
Human Protein AtlasENSG00000269858
HPRD06970
IPIIPI00074957   IPI00955972   
Protein Interaction databases
DIP (DOE-UCLA)Q96KS0
IntAct (EBI)Q96KS0
FunCoupENSG00000269858
REACTOMEEGLN2
Protein Interaction Database112398
BioGRIDEGLN2
InParanoidQ96KS0
Interologous Interaction database Q96KS0
IntegromeDBEGLN2
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EGLN2
SNP (GeneSNP Utah)EGLN2
SNP : HGBaseEGLN2
Genetic variants : HAPMAPEGLN2
Somatic Mutations in Cancer : COSMICEGLN2 
CONAN: Copy Number AnalysisEGLN2 
Mutations and Diseases : HGMDEGLN2
OMIM606424   
GENETests606424   
Disease Genetic AssociationEGLN2
Huge Navigator EGLN2 [HugePedia]  EGLN2 [HugeCancerGEM]
Genomic VariantsEGLN2  EGLN2 [DGVbeta]
ClinVarEGLN2
snp3D : Map Gene to Disease112398
General knowledge
Homologs : HomoloGeneEGLN2
Homology/Alignments : Family Browser (UCSC)EGLN2
Phylogenetic Trees/Animal Genes : TreeFamEGLN2
Catalytic activity : Enzyme1.14.11.29 [ Enzyme-Expasy ]   1.14.11.29 [ Enzyme-SRS ]   1.14.11.29 [ IntEnz-EBI ]   1.14.11.29 [ BRENDA ]   1.14.11.29 [ KEGG ]   
Chemical/Protein Interactions : CTD112398
Chemical/Pharm GKB GenePA27671
Clinical trialEGLN2
Cancer Resource (Charite)ENSG00000269858
Ontology : AmiGOregulation of cell growth  response to hypoxia  protein binding  nucleus  nucleoplasm  ferrous iron binding  oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  oxygen sensor activity  intracellular estrogen receptor signaling pathway  L-ascorbic acid binding  peptidyl-proline 4-dioxygenase activity  cellular response to stress  regulation of neuron apoptotic process  cell redox homeostasis  positive regulation of protein catabolic process  regulation of transcription from RNA polymerase II promoter in response to hypoxia  cellular response to hypoxia  
Ontology : EGO-EBIregulation of cell growth  response to hypoxia  protein binding  nucleus  nucleoplasm  ferrous iron binding  oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  oxygen sensor activity  intracellular estrogen receptor signaling pathway  L-ascorbic acid binding  peptidyl-proline 4-dioxygenase activity  cellular response to stress  regulation of neuron apoptotic process  cell redox homeostasis  positive regulation of protein catabolic process  regulation of transcription from RNA polymerase II promoter in response to hypoxia  cellular response to hypoxia  
Other databases
Probes
Litterature
PubMed67 Pubmed reference(s) in Entrez
PubGeneEGLN2
iHOPEGLN2
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 14 17:35:47 CEST 2013

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