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P4HA2 (prolyl 4-hydroxylase subunit alpha 2)

Identity

Alias (NCBI)MYP25
HGNC (Hugo) P4HA2
HGNC Alias symbC-P4Halpha(II)
HGNC Alias name4-PH alpha 2
 collagen prolyl 4-hydroxylase alpha(II)
HGNC Previous nameprocollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II
 prolyl 4-hydroxylase, alpha polypeptide II
LocusID (NCBI) 8974
Atlas_Id 52639
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 132190147 and ends at 132227091 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)
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    prolyl 4-hydroxylase subunit alpha 2
AliasesMYP25
GeneCards (Weizmann)P4HA2
Ensembl hg19 (Hinxton)ENSG00000072682 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000072682 [Gene_View]  ENSG00000072682 [Sequence]  chr5:132190147-132227091 [Contig_View]  P4HA2 [Vega]
ICGC DataPortalENSG00000072682
TCGA cBioPortalP4HA2
AceView (NCBI)P4HA2
Genatlas (Paris)P4HA2
SOURCE (Princeton)P4HA2
Genetics Home Reference (NIH)P4HA2
Genomic and cartography
GoldenPath hg38 (UCSC)P4HA2  -     chr5:132190147-132227091 -  5q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)P4HA2  -     5q31.1   [Description]    (hg19-Feb_2009)
GoldenPathP4HA2 - 5q31.1 [CytoView hg19]  P4HA2 - 5q31.1 [CytoView hg38]
ImmunoBaseENSG00000072682
Genome Data Viewer NCBIP4HA2 [Mapview hg19]  
OMIM600608   617238   
Gene and transcription
Genbank (Entrez)AU117989 AY358970 BC013423 BC017062 BC025960
RefSeq transcript (Entrez)NM_001017974 NM_001142598 NM_001142599 NM_001365677 NM_001365678 NM_001365679 NM_001365680 NM_001365681 NM_004199
Consensus coding sequences : CCDS (NCBI)P4HA2
Gene ExpressionP4HA2 [ NCBI-GEO ]   P4HA2 [ EBI - ARRAY_EXPRESS ]   P4HA2 [ SEEK ]   P4HA2 [ MEM ]
Gene Expression Viewer (FireBrowse)P4HA2 [ Firebrowse - Broad ]
GenevisibleExpression of P4HA2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8974
GTEX Portal (Tissue expression)P4HA2
Human Protein AtlasENSG00000072682-P4HA2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15460   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15460  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15460
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 ]   [ MEROPS ]
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_sf    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)  
Conserved Domain (NCBI)P4HA2
PDB (RSDB)6EVL    6EVM    6EVN    6EVO    6EVP   
PDB Europe6EVL    6EVM    6EVN    6EVO    6EVP   
PDB (PDBSum)6EVL    6EVM    6EVN    6EVO    6EVP   
PDB (IMB)6EVL    6EVM    6EVN    6EVO    6EVP   
Structural Biology KnowledgeBase6EVL    6EVM    6EVN    6EVO    6EVP   
SCOP (Structural Classification of Proteins)6EVL    6EVM    6EVN    6EVO    6EVP   
CATH (Classification of proteins structures)6EVL    6EVM    6EVN    6EVO    6EVP   
SuperfamilyO15460
AlphaFold pdb e-kbO15460   
Human Protein Atlas [tissue]ENSG00000072682-P4HA2 [tissue]
HPRD11862
Protein Interaction databases
DIP (DOE-UCLA)O15460
IntAct (EBI)O15460
BioGRIDP4HA2
STRING (EMBL)P4HA2
ZODIACP4HA2
Ontologies - Pathways
QuickGOO15460
Ontology : AmiGOprocollagen-proline 4-dioxygenase activity  iron ion binding  nucleoplasm  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  cytosol  electron transfer activity  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  electron transport chain  collagen fibril organization  L-ascorbic acid binding  intracellular membrane-bounded organelle  
Ontology : EGO-EBIprocollagen-proline 4-dioxygenase activity  iron ion binding  nucleoplasm  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  cytosol  electron transfer activity  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  electron transport chain  collagen fibril organization  L-ascorbic acid binding  intracellular membrane-bounded organelle  
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 : MitelmanCTNND2/P4HA2 [5p15.2/5q31.1]  
Fusion : MitelmanPITX1/P4HA2 [5q31.1/5q31.1]  
Fusion : QuiverP4HA2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP4HA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P4HA2
dbVarP4HA2
ClinVarP4HA2
MonarchP4HA2
1000_GenomesP4HA2 
Exome Variant ServerP4HA2
GNOMAD BrowserENSG00000072682
Varsome BrowserP4HA2
ACMGP4HA2 variants
VarityO15460
Genomic Variants (DGV)P4HA2 [DGVbeta]
DECIPHERP4HA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisP4HA2 
Mutations
ICGC Data PortalP4HA2 
TCGA Data PortalP4HA2 
Broad Tumor PortalP4HA2
OASIS PortalP4HA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICP4HA2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DP4HA2
Mutations and Diseases : HGMDP4HA2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaP4HA2
DgiDB (Drug Gene Interaction Database)P4HA2
DoCM (Curated mutations)P4HA2
CIViC (Clinical Interpretations of Variants in Cancer)P4HA2
Cancer3DP4HA2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600608    617238   
Orphanet
DisGeNETP4HA2
MedgenP4HA2
Genetic Testing Registry P4HA2
NextProtO15460 [Medical]
GENETestsP4HA2
Target ValidationP4HA2
Huge Navigator P4HA2 [HugePedia]
ClinGenP4HA2
Clinical trials, drugs, therapy
MyCancerGenomeP4HA2
Protein Interactions : CTDP4HA2
Pharm GKB GenePA32875
PharosO15460
Clinical trialP4HA2
Miscellaneous
canSAR (ICR)P4HA2
HarmonizomeP4HA2
DataMed IndexP4HA2
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXP4HA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:24:05 CEST 2021

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