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P4HA2 (prolyl 4-hydroxylase, alpha polypeptide II)

Identity

Other names-
HGNC (Hugo) P4HA2
LocusID (NCBI) 8974
Location 5q31.1
Location_base_pair Starts at 131528304 and ends at 131562935 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)P4HA2   8547
Entrez_Gene (NCBI)P4HA2  8974  prolyl 4-hydroxylase, alpha polypeptide II
Cards
GeneCards (Weizmann)P4HA2
Ensembl (Hinxton)ENSG00000072682 [Gene_View]  chr5:131528304-131562935 [Contig_View]  P4HA2 [Vega]
AceView (NCBI)P4HA2
Genatlas (Paris)P4HA2
SOURCE (Stanford)NM_001017973 NM_001017974 NM_001142598 NM_001142599 NM_004199
Genomic and cartography
GoldenPath (UCSC)P4HA2  -  5q31.1   chr5:131528304-131562935 -  5q31.1   [Description]    (hg19-Feb_2009)
EnsemblP4HA2 - 5q31.1 [CytoView]
Mapping of homologs : NCBIP4HA2 [Mapview]
OMIM600608   
Gene and transcription
Genbank (Entrez)AU117989 AY358970 BC017062 BC025960 BC035813
RefSeq transcript (SRS)NM_001017973 NM_001017974 NM_001142598 NM_001142599 NM_004199
RefSeq transcript (Entrez)NM_001017973 NM_001017974 NM_001142598 NM_001142599 NM_004199
RefSeq genomic (SRS)AC_000137 NC_000005 NC_018916 NT_034772 NW_001838952 NW_004078024
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NT_034772 NW_001838952 NW_004078024
Consensus coding sequences : CCDS (NCBI)P4HA2
Cluster EST : UnigeneHs.519568 [ SRS ] Hs.519568 [ NCBI ]
CGAP (NCI)Hs.519568
Alternative Splicing : Fast-db (Paris)GSHG0025043
Alternative Splicing GalleryENSG00000072682
Gene ExpressionP4HA2 [ NCBI-GEO ]   P4HA2 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15460 (SRS) O15460 (Uniprot)
NextProtO15460
With graphics : InterProO15460
Splice isoforms : SwissVarO15460(Swissvar)
Domaine pattern : Prosite (SRS)FE2OG_OXY (PS51471)    TPR (PS50005)    TPR_REGION (PS50293)   
Domaine pattern : Prosite (Expaxy)FE2OG_OXY (PS51471)    TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (SRS)Oxoglu/Fe-dep_dioxygenase    Pro_4_hyd_alph    Pro_4_hyd_alph_N    TPR-contain_dom    TPR-like_helical    TPR_repeat   
Domains : Interpro (EBI)Oxoglu/Fe-dep_dioxygenase    Pro_4_hyd_alph    Pro_4_hyd_alph_N    TPR-contain_dom    TPR-like_helical    TPR_repeat   
Related proteins : CluSTrO15460
Domain families : Pfam (SRS)2OG-FeII_Oxy (PF03171)    P4Ha_N (PF08336)   
Domain families : Pfam (Sanger)2OG-FeII_Oxy (PF03171)    P4Ha_N (PF08336)   
Domain families : Pfam (NCBI)pfam03171    pfam08336   
Domain families : Smart (EMBL)P4Hc (SM00702)  
DMDM8974
Blocks (Seattle)O15460
Human Protein AtlasENSG00000072682
HPRD11862
IPIIPI00003128   IPI00182373   IPI00657829   IPI00657802   IPI00657713   IPI00894468   IPI00852922   IPI00853118   IPI00852761   IPI00852962   IPI00852618   IPI00927141   
Protein Interaction databases
DIP (DOE-UCLA)O15460
IntAct (EBI)O15460
FunCoupENSG00000072682
REACTOMEP4HA2
Protein Interaction Database8974
BioGRIDP4HA2
InParanoidO15460
Interologous Interaction database O15460
IntegromeDBP4HA2
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)P4HA2
SNP (GeneSNP Utah)P4HA2
SNP : HGBaseP4HA2
Genetic variants : HAPMAPP4HA2
Somatic Mutations in Cancer : COSMICP4HA2 
CONAN: Copy Number AnalysisP4HA2 
Mutations and Diseases : HGMDP4HA2
OMIM600608   
GENETests600608   
Disease Genetic AssociationP4HA2
Huge Navigator P4HA2 [HugePedia]  P4HA2 [HugeCancerGEM]
Genomic VariantsP4HA2  P4HA2 [DGVbeta]
snp3D : Map Gene to Disease8974
General knowledge
Homologs : HomoloGeneP4HA2
Homology/Alignments : Family Browser (UCSC)P4HA2
Phylogenetic Trees/Animal Genes : TreeFamP4HA2
Catalytic activity : Enzyme1.14.11.2 [ Enzyme-Expasy ]   1.14.11.2 [ Enzyme-SRS ]   1.14.11.2 [ IntEnz-EBI ]   1.14.11.2 [ BRENDA ]   1.14.11.2 [ KEGG ]   
Chemical/Protein Interactions : CTD8974
Chemical/Pharm GKB GenePA32875
Clinical trialP4HA2
Cancer Resource (Charite)ENSG00000072682
Ontology : AmiGOprocollagen-proline 4-dioxygenase activity  iron ion binding  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 to 4-hydroxy-L-proline  L-ascorbic acid binding  
Ontology : EGO-EBIprocollagen-proline 4-dioxygenase activity  iron ion binding  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 to 4-hydroxy-L-proline  L-ascorbic acid binding  
Pathways : KEGGArginine and proline metabolism
Other databases
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
PubGeneP4HA2
iHOPP4HA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:33:10 CEST 2013

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