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P4HA2 (prolyl 4-hydroxylase subunit alpha 2)

Identity

Other names-
HGNC (Hugo) P4HA2
LocusID (NCBI) 8974
Atlas_Id 52639
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 131528304 and ends at 131562935 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CTNND2 (5p15.2) / P4HA2 (5q31.1)PITX1 (5q31.1) / P4HA2 (5q31.1)CTNND2 5p15.2 / P4HA2 5q31.1
PITX1 5q31.1 / P4HA2 5q31.1

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)P4HA2   8547
Cards
Entrez_Gene (NCBI)P4HA2  8974  prolyl 4-hydroxylase subunit alpha 2
Aliases
GeneCards (Weizmann)P4HA2
Ensembl hg19 (Hinxton)ENSG00000072682 [Gene_View]  chr5:131528304-131562935 [Contig_View]  P4HA2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000072682 [Gene_View]  chr5:131528304-131562935 [Contig_View]  P4HA2 [Vega]
ICGC DataPortalENSG00000072682
TCGA cBioPortalP4HA2
AceView (NCBI)P4HA2
Genatlas (Paris)P4HA2
WikiGenes8974
SOURCE (Princeton)P4HA2
Genomic and cartography
GoldenPath hg19 (UCSC)P4HA2  -     chr5:131528304-131562935 -  5q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)P4HA2  -     5q31.1   [Description]    (hg38-Dec_2013)
EnsemblP4HA2 - 5q31.1 [CytoView hg19]  P4HA2 - 5q31.1 [CytoView hg38]
Mapping of homologs : NCBIP4HA2 [Mapview hg19]  P4HA2 [Mapview hg38]
OMIM600608   
Gene and transcription
Genbank (Entrez)AU117989 AY358970 BC017062 BC025960 BC035813
RefSeq transcript (Entrez)NM_001017973 NM_001017974 NM_001142598 NM_001142599 NM_004199
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)P4HA2
Cluster EST : UnigeneHs.519568 [ NCBI ]
CGAP (NCI)Hs.519568
Alternative Splicing GalleryENSG00000072682
Gene ExpressionP4HA2 [ NCBI-GEO ]   P4HA2 [ EBI - ARRAY_EXPRESS ]   P4HA2 [ SEEK ]   P4HA2 [ MEM ]
Gene Expression Viewer (FireBrowse)P4HA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8974
GTEX Portal (Tissue expression)P4HA2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15460 (Uniprot)
NextProtO15460  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15460
Splice isoforms : SwissVarO15460 (Swissvar)
Catalytic activity : Enzyme1.14.11.2 [ Enzyme-Expasy ]   1.14.11.21.14.11.2 [ IntEnz-EBI ]   1.14.11.2 [ BRENDA ]   1.14.11.2 [ KEGG ]   
PhosPhoSitePlusO15460
Domaine pattern : Prosite (Expaxy)FE2OG_OXY (PS51471)    TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)Oxoglu/Fe-dep_dioxygenase    Pro_4_hyd_alph    Pro_4_hyd_alph_N    TPR-contain_dom    TPR-like_helical_dom    TPR_repeat   
Domain families : Pfam (Sanger)2OG-FeII_Oxy_3 (PF13640)    P4Ha_N (PF08336)   
Domain families : Pfam (NCBI)pfam13640    pfam08336   
Domain families : Smart (EMBL)P4Hc (SM00702)  
DMDM Disease mutations8974
Blocks (Seattle)P4HA2
SuperfamilyO15460
Human Protein AtlasENSG00000072682
Peptide AtlasO15460
HPRD11862
IPIIPI00003128   IPI00182373   IPI00657829   IPI00657802   IPI00657713   IPI00894468   IPI00852922   IPI00853118   IPI00852761   IPI00852962   IPI00852618   IPI00927141   
Protein Interaction databases
DIP (DOE-UCLA)O15460
IntAct (EBI)O15460
FunCoupENSG00000072682
BioGRIDP4HA2
STRING (EMBL)P4HA2
ZODIACP4HA2
Ontologies - Pathways
QuickGOO15460
Ontology : AmiGOprocollagen-proline 4-dioxygenase activity  iron ion binding  protein binding  nucleus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum lumen  electron carrier activity  oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen  peptidyl-proline hydroxylation  peptidyl-proline hydroxylation  L-ascorbic acid binding  intracellular membrane-bounded organelle  oxidation-reduction process  
Ontology : EGO-EBIprocollagen-proline 4-dioxygenase activity  iron ion binding  protein binding  nucleus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum lumen  electron carrier activity  oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen  peptidyl-proline hydroxylation  peptidyl-proline hydroxylation  L-ascorbic acid binding  intracellular membrane-bounded organelle  oxidation-reduction process  
Pathways : KEGGArginine and proline metabolism   
NDEx NetworkP4HA2
Atlas of Cancer Signalling NetworkP4HA2
Wikipedia pathwaysP4HA2
Orthology - Evolution
OrthoDB8974
GeneTree (enSembl)ENSG00000072682
Phylogenetic Trees/Animal Genes : TreeFamP4HA2
Homologs : HomoloGeneP4HA2
Homology/Alignments : Family Browser (UCSC)P4HA2
Gene fusions - Rearrangements
Fusion: TCGACTNND2 5p15.2 P4HA2 5q31.1 BRCA
Fusion: TCGAPITX1 5q31.1 P4HA2 5q31.1 HNSC
Polymorphisms : SNP, variants
NCBI Variation ViewerP4HA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P4HA2
dbVarP4HA2
ClinVarP4HA2
1000_GenomesP4HA2 
Exome Variant ServerP4HA2
ExAC (Exome Aggregation Consortium)P4HA2 (select the gene name)
Genetic variants : HAPMAP8974
Genomic Variants (DGV)P4HA2 [DGVbeta]
Mutations
ICGC Data PortalP4HA2 
TCGA Data PortalP4HA2 
Broad Tumor PortalP4HA2
OASIS PortalP4HA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICP4HA2 
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 P4HA2
DgiDB (Drug Gene Interaction Database)P4HA2
DoCM (Curated mutations)P4HA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)P4HA2 (select a term)
intoGenP4HA2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:131528304-131562935  ENSG00000072682
CONAN: Copy Number AnalysisP4HA2 
Mutations and Diseases : HGMDP4HA2
OMIM600608   
MedgenP4HA2
Genetic Testing Registry P4HA2
NextProtO15460 [Medical]
TSGene8974
GENETestsP4HA2
Huge Navigator P4HA2 [HugePedia]
snp3D : Map Gene to Disease8974
BioCentury BCIQP4HA2
ClinGenP4HA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8974
Chemical/Pharm GKB GenePA32875
Clinical trialP4HA2
Miscellaneous
canSAR (ICR)P4HA2 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineP4HA2
EVEXP4HA2
GoPubMedP4HA2
iHOPP4HA2
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 19 19:05:58 CEST 2016

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