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EGLN2 (egl-9 family hypoxia inducible factor 2)

Identity

Alias_namesegl nine homolog 2 (C. elegans)
Alias_symbol (synonym)PHD1
HIFPH1
Other aliasEIT6
HIF-PH1
HPH-1
HPH-3
HGNC (Hugo) EGLN2
LocusID (NCBI) 112398
Atlas_Id 46124
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 40799429 and ends at 40808441 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EGLN2 (19q13.2) / PLD3 (19q13.2)EGLN2 (19q13.2) / SHOC2 (10q25.2)EGLN2 19q13.2 / PLD3 19q13.2

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
Cards
Entrez_Gene (NCBI)EGLN2  112398  egl-9 family hypoxia inducible factor 2
AliasesEIT6; HIF-PH1; HIFPH1; HPH-1; 
HPH-3; PHD1
GeneCards (Weizmann)EGLN2
Ensembl hg19 (Hinxton)ENSG00000269858 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000269858 [Gene_View]  chr19:40799429-40808441 [Contig_View]  EGLN2 [Vega]
ICGC DataPortalENSG00000269858
TCGA cBioPortalEGLN2
AceView (NCBI)EGLN2
Genatlas (Paris)EGLN2
WikiGenes112398
SOURCE (Princeton)EGLN2
Genetics Home Reference (NIH)EGLN2
Genomic and cartography
GoldenPath hg38 (UCSC)EGLN2  -     chr19:40799429-40808441 +  19q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EGLN2  -     19q13.2   [Description]    (hg19-Feb_2009)
EnsemblEGLN2 - 19q13.2 [CytoView hg19]  EGLN2 - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBIEGLN2 [Mapview hg19]  EGLN2 [Mapview hg38]
OMIM606424   
Gene and transcription
Genbank (Entrez)AA994838 AJ310544 AK025396 AK026863 AK074408
RefSeq transcript (Entrez)NM_017555 NM_053046 NM_080732
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EGLN2
Cluster EST : UnigeneHs.730737 [ NCBI ]
CGAP (NCI)Hs.730737
Alternative Splicing GalleryENSG00000269858
Gene ExpressionEGLN2 [ NCBI-GEO ]   EGLN2 [ EBI - ARRAY_EXPRESS ]   EGLN2 [ SEEK ]   EGLN2 [ MEM ]
Gene Expression Viewer (FireBrowse)EGLN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)112398
GTEX Portal (Tissue expression)EGLN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96KS0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96KS0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96KS0
Splice isoforms : SwissVarQ96KS0
Catalytic activity : Enzyme1.14.11.29 [ Enzyme-Expasy ]   1.14.11.291.14.11.29 [ IntEnz-EBI ]   1.14.11.29 [ BRENDA ]   1.14.11.29 [ KEGG ]   
PhosPhoSitePlusQ96KS0
Domaine pattern : Prosite (Expaxy)FE2OG_OXY (PS51471)   
Domains : Interpro (EBI)Oxoglu/Fe-dep_dioxygenase    Pro_4_hyd_alph   
Domain families : Pfam (Sanger)2OG-FeII_Oxy_3 (PF13640)   
Domain families : Pfam (NCBI)pfam13640   
Domain families : Smart (EMBL)P4Hc (SM00702)  
Conserved Domain (NCBI)EGLN2
DMDM Disease mutations112398
Blocks (Seattle)EGLN2
SuperfamilyQ96KS0
Human Protein AtlasENSG00000269858
Peptide AtlasQ96KS0
HPRD06970
IPIIPI00074957   IPI00955972   
Protein Interaction databases
DIP (DOE-UCLA)Q96KS0
IntAct (EBI)Q96KS0
FunCoupENSG00000269858
BioGRIDEGLN2
STRING (EMBL)EGLN2
ZODIACEGLN2
Ontologies - Pathways
QuickGOQ96KS0
Ontology : AmiGOregulation of cell growth  response to hypoxia  protein binding  nucleus  nucleoplasm  nucleoplasm  ferrous iron binding  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  peptidyl-proline 4-dioxygenase activity  regulation of neuron apoptotic process  cell redox homeostasis  positive regulation of protein catabolic process  oxidation-reduction process  regulation of transcription from RNA polymerase II promoter in response to hypoxia  
Ontology : EGO-EBIregulation of cell growth  response to hypoxia  protein binding  nucleus  nucleoplasm  nucleoplasm  ferrous iron binding  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  peptidyl-proline 4-dioxygenase activity  regulation of neuron apoptotic process  cell redox homeostasis  positive regulation of protein catabolic process  oxidation-reduction process  regulation of transcription from RNA polymerase II promoter in response to hypoxia  
Pathways : KEGGHIF-1 signaling pathway    Pathways in cancer    Renal cell carcinoma   
NDEx NetworkEGLN2
Atlas of Cancer Signalling NetworkEGLN2
Wikipedia pathwaysEGLN2
Orthology - Evolution
OrthoDB112398
GeneTree (enSembl)ENSG00000269858
Phylogenetic Trees/Animal Genes : TreeFamEGLN2
HOVERGENQ96KS0
HOGENOMQ96KS0
Homologs : HomoloGeneEGLN2
Homology/Alignments : Family Browser (UCSC)EGLN2
Gene fusions - Rearrangements
Fusion : MitelmanEGLN2/PLD3 [19q13.2/19q13.2]  
Fusion: TCGAEGLN2 19q13.2 PLD3 19q13.2 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEGLN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EGLN2
dbVarEGLN2
ClinVarEGLN2
1000_GenomesEGLN2 
Exome Variant ServerEGLN2
ExAC (Exome Aggregation Consortium)EGLN2 (select the gene name)
Genetic variants : HAPMAP112398
Genomic Variants (DGV)EGLN2 [DGVbeta]
DECIPHEREGLN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEGLN2 
Mutations
ICGC Data PortalEGLN2 
TCGA Data PortalEGLN2 
Broad Tumor PortalEGLN2
OASIS PortalEGLN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEGLN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEGLN2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EGLN2
DgiDB (Drug Gene Interaction Database)EGLN2
DoCM (Curated mutations)EGLN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EGLN2 (select a term)
intoGenEGLN2
Cancer3DEGLN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606424   
Orphanet
MedgenEGLN2
Genetic Testing Registry EGLN2
NextProtQ96KS0 [Medical]
TSGene112398
GENETestsEGLN2
Huge Navigator EGLN2 [HugePedia]
snp3D : Map Gene to Disease112398
BioCentury BCIQEGLN2
ClinGenEGLN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD112398
Chemical/Pharm GKB GenePA27671
Clinical trialEGLN2
Miscellaneous
canSAR (ICR)EGLN2 (select the gene name)
Probes
Litterature
PubMed85 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEGLN2
EVEXEGLN2
GoPubMedEGLN2
iHOPEGLN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:14:21 CEST 2017

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