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EGLN3 (egl-9 family hypoxia inducible factor 3)

Identity

Alias_namesegl nine homolog 3 (C. elegans)
Alias_symbol (synonym)PHD3
HIFPH3
Other aliasHIFP4H3
HGNC (Hugo) EGLN3
LocusID (NCBI) 112399
Atlas_Id 46747
Location 14q13.1  [Link to chromosome band 14q13]
Location_base_pair Starts at 33924215 and ends at 33950826 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AKAP6 (14q12) / EGLN3 (14q13.1)EGLN3 (14q13.1) / NCBP3 (17p13.2)STRN3 (14q12) / EGLN3 (14q13.1)
UTP15 (5q13.2) / EGLN3 (14q13.1)AKAP6 14q12 / EGLN3 14q13.1STRN3 14q12 / EGLN3 14q13.1

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)EGLN3   14661
Cards
Entrez_Gene (NCBI)EGLN3  112399  egl-9 family hypoxia inducible factor 3
AliasesHIFP4H3; HIFPH3; PHD3
GeneCards (Weizmann)EGLN3
Ensembl hg19 (Hinxton)ENSG00000129521 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129521 [Gene_View]  chr14:33924215-33950826 [Contig_View]  EGLN3 [Vega]
ICGC DataPortalENSG00000129521
TCGA cBioPortalEGLN3
AceView (NCBI)EGLN3
Genatlas (Paris)EGLN3
WikiGenes112399
SOURCE (Princeton)EGLN3
Genetics Home Reference (NIH)EGLN3
Genomic and cartography
GoldenPath hg38 (UCSC)EGLN3  -     chr14:33924215-33950826 -  14q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EGLN3  -     14q13.1   [Description]    (hg19-Feb_2009)
EnsemblEGLN3 - 14q13.1 [CytoView hg19]  EGLN3 - 14q13.1 [CytoView hg38]
Mapping of homologs : NCBIEGLN3 [Mapview hg19]  EGLN3 [Mapview hg38]
OMIM606426   
Gene and transcription
Genbank (Entrez)AJ310545 AK025273 AK026918 AK123350 AK225473
RefSeq transcript (Entrez)NM_001308103 NM_022073
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EGLN3
Cluster EST : UnigeneHs.597964 [ NCBI ]
CGAP (NCI)Hs.597964
Alternative Splicing GalleryENSG00000129521
Gene ExpressionEGLN3 [ NCBI-GEO ]   EGLN3 [ EBI - ARRAY_EXPRESS ]   EGLN3 [ SEEK ]   EGLN3 [ MEM ]
Gene Expression Viewer (FireBrowse)EGLN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)112399
GTEX Portal (Tissue expression)EGLN3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H6Z9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H6Z9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H6Z9
Splice isoforms : SwissVarQ9H6Z9
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 ]   
PhosPhoSitePlusQ9H6Z9
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)EGLN3
DMDM Disease mutations112399
Blocks (Seattle)EGLN3
SuperfamilyQ9H6Z9
Human Protein AtlasENSG00000129521
Peptide AtlasQ9H6Z9
HPRD06972
IPIIPI00004971   IPI00909827   IPI00967640   IPI01026444   
Protein Interaction databases
DIP (DOE-UCLA)Q9H6Z9
IntAct (EBI)Q9H6Z9
FunCoupENSG00000129521
BioGRIDEGLN3
STRING (EMBL)EGLN3
ZODIACEGLN3
Ontologies - Pathways
QuickGOQ9H6Z9
Ontology : AmiGOresponse to hypoxia  iron ion binding  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  cytosol  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cellular response to DNA damage stimulus  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  protein hydroxylation  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  L-ascorbic acid binding  peptidyl-proline 4-dioxygenase activity  peptidyl-proline 4-dioxygenase activity  regulation of cell proliferation  regulation of neuron apoptotic process  oxidation-reduction process  regulation of transcription from RNA polymerase II promoter in response to hypoxia  
Ontology : EGO-EBIresponse to hypoxia  iron ion binding  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  cytosol  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cellular response to DNA damage stimulus  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  protein hydroxylation  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  L-ascorbic acid binding  peptidyl-proline 4-dioxygenase activity  peptidyl-proline 4-dioxygenase activity  regulation of cell proliferation  regulation of neuron apoptotic 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 NetworkEGLN3
Atlas of Cancer Signalling NetworkEGLN3
Wikipedia pathwaysEGLN3
Orthology - Evolution
OrthoDB112399
GeneTree (enSembl)ENSG00000129521
Phylogenetic Trees/Animal Genes : TreeFamEGLN3
HOVERGENQ9H6Z9
HOGENOMQ9H6Z9
Homologs : HomoloGeneEGLN3
Homology/Alignments : Family Browser (UCSC)EGLN3
Gene fusions - Rearrangements
Fusion : MitelmanAKAP6/EGLN3 [14q12/14q13.1]  [t(14;14)(q12;q13)]  
Fusion : MitelmanSTRN3/EGLN3 [14q12/14q13.1]  [t(14;14)(q12;q13)]  
Fusion: TCGAAKAP6 14q12 EGLN3 14q13.1 GBM
Fusion: TCGASTRN3 14q12 EGLN3 14q13.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEGLN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EGLN3
dbVarEGLN3
ClinVarEGLN3
1000_GenomesEGLN3 
Exome Variant ServerEGLN3
ExAC (Exome Aggregation Consortium)EGLN3 (select the gene name)
Genetic variants : HAPMAP112399
Genomic Variants (DGV)EGLN3 [DGVbeta]
DECIPHEREGLN3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEGLN3 
Mutations
ICGC Data PortalEGLN3 
TCGA Data PortalEGLN3 
Broad Tumor PortalEGLN3
OASIS PortalEGLN3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEGLN3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEGLN3
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 EGLN3
DgiDB (Drug Gene Interaction Database)EGLN3
DoCM (Curated mutations)EGLN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EGLN3 (select a term)
intoGenEGLN3
Cancer3DEGLN3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606426   
Orphanet
MedgenEGLN3
Genetic Testing Registry EGLN3
NextProtQ9H6Z9 [Medical]
TSGene112399
GENETestsEGLN3
Target ValidationEGLN3
Huge Navigator EGLN3 [HugePedia]
snp3D : Map Gene to Disease112399
BioCentury BCIQEGLN3
ClinGenEGLN3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD112399
Chemical/Pharm GKB GenePA27672
Clinical trialEGLN3
Miscellaneous
canSAR (ICR)EGLN3 (select the gene name)
Probes
Litterature
PubMed94 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEGLN3
EVEXEGLN3
GoPubMedEGLN3
iHOPEGLN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:52:22 CEST 2017

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