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EGLN3 (egl-9 family hypoxia inducible factor 3)

Identity

Alias (NCBI)HIFP4H3
HIFPH3
PHD3
HGNC (Hugo) EGLN3
HGNC Alias symbPHD3
HIFPH3
HGNC Alias nameHIF prolyl hydroxylase 3
HGNC Previous nameegl nine homolog 3 (C. elegans)
LocusID (NCBI) 112399
Atlas_Id 46747
Location 14q13.1  [Link to chromosome band 14q13]
Location_base_pair Starts at 33924227 and ends at 33951074 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    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]  ENSG00000129521 [Sequence]  chr14:33924227-33951074 [Contig_View]  EGLN3 [Vega]
ICGC DataPortalENSG00000129521
TCGA cBioPortalEGLN3
AceView (NCBI)EGLN3
Genatlas (Paris)EGLN3
SOURCE (Princeton)EGLN3
Genetics Home Reference (NIH)EGLN3
Genomic and cartography
GoldenPath hg38 (UCSC)EGLN3  -     chr14:33924227-33951074 -  14q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EGLN3  -     14q13.1   [Description]    (hg19-Feb_2009)
GoldenPathEGLN3 - 14q13.1 [CytoView hg19]  EGLN3 - 14q13.1 [CytoView hg38]
ImmunoBaseENSG00000129521
Genome Data Viewer NCBIEGLN3 [Mapview hg19]  
OMIM606426   
Gene and transcription
Genbank (Entrez)AJ310545 AK025273 AK026918 AK123350 AK225473
RefSeq transcript (Entrez)NM_001308103 NM_022073
Consensus coding sequences : CCDS (NCBI)EGLN3
Gene ExpressionEGLN3 [ NCBI-GEO ]   EGLN3 [ EBI - ARRAY_EXPRESS ]   EGLN3 [ SEEK ]   EGLN3 [ MEM ]
Gene Expression Viewer (FireBrowse)EGLN3 [ Firebrowse - Broad ]
GenevisibleExpression of EGLN3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)112399
GTEX Portal (Tissue expression)EGLN3
Human Protein AtlasENSG00000129521-EGLN3 [pathology]   [cell]   [tissue]
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
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
SuperfamilyQ9H6Z9
AlphaFold pdb e-kbQ9H6Z9   
Human Protein Atlas [tissue]ENSG00000129521-EGLN3 [tissue]
HPRD06972
Protein Interaction databases
DIP (DOE-UCLA)Q9H6Z9
IntAct (EBI)Q9H6Z9
BioGRIDEGLN3
STRING (EMBL)EGLN3
ZODIACEGLN3
Ontologies - Pathways
QuickGOQ9H6Z9
Ontology : AmiGOresponse to hypoxia  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytosol  cytosol  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cellular response to DNA damage stimulus  ferrous iron binding  2-oxoglutarate-dependent dioxygenase activity  protein hydroxylation  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  L-ascorbic acid binding  peptidyl-proline dioxygenase activity  peptidyl-proline 4-dioxygenase activity  peptidyl-proline 4-dioxygenase activity  regulation of cell population proliferation  regulation of neuron apoptotic process  regulation of transcription from RNA polymerase II promoter in response to hypoxia  cellular response to hypoxia  
Ontology : EGO-EBIresponse to hypoxia  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytosol  cytosol  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cellular response to DNA damage stimulus  ferrous iron binding  2-oxoglutarate-dependent dioxygenase activity  protein hydroxylation  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  L-ascorbic acid binding  peptidyl-proline dioxygenase activity  peptidyl-proline 4-dioxygenase activity  peptidyl-proline 4-dioxygenase activity  regulation of cell population proliferation  regulation of neuron apoptotic process  regulation of transcription from RNA polymerase II promoter in response to hypoxia  cellular 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
Homologs : HomoloGeneEGLN3
Homology/Alignments : Family Browser (UCSC)EGLN3
Gene fusions - Rearrangements
Fusion : MitelmanAKAP6/EGLN3 [14q12/14q13.1]  
Fusion : MitelmanSTRN3/EGLN3 [14q12/14q13.1]  
Fusion : QuiverEGLN3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEGLN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EGLN3
dbVarEGLN3
ClinVarEGLN3
MonarchEGLN3
1000_GenomesEGLN3 
Exome Variant ServerEGLN3
GNOMAD BrowserENSG00000129521
Varsome BrowserEGLN3
ACMGEGLN3 variants
VarityQ9H6Z9
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]  
Somatic Mutations in Cancer : COSMIC3DEGLN3
Mutations and Diseases : HGMDEGLN3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEGLN3
DgiDB (Drug Gene Interaction Database)EGLN3
DoCM (Curated mutations)EGLN3
CIViC (Clinical Interpretations of Variants in Cancer)EGLN3
Cancer3DEGLN3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606426   
Orphanet
DisGeNETEGLN3
MedgenEGLN3
Genetic Testing Registry EGLN3
NextProtQ9H6Z9 [Medical]
GENETestsEGLN3
Target ValidationEGLN3
Huge Navigator EGLN3 [HugePedia]
ClinGenEGLN3
Clinical trials, drugs, therapy
MyCancerGenomeEGLN3
Protein Interactions : CTDEGLN3
Pharm GKB GenePA27672
PharosQ9H6Z9
Clinical trialEGLN3
Miscellaneous
canSAR (ICR)EGLN3
HarmonizomeEGLN3
DataMed IndexEGLN3
Probes
Litterature
PubMed123 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEGLN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:07:48 CEST 2021

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