P4HA2 Gene
protein-coding GIFtS : 62
GC05M131556
prolyl 4-hydroxylase, alpha polypeptide II (Previous names: procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases & Descriptions for P4HA2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases C-P4Halpha(II) 1 , 2 EC 1.14.11.2 3 OTTHUMP00000065966 2 OTTHUMP00000065967 2 OTTHUMP00000065968 2 OTTHUMP00000065969 2
Descriptions 4-PH alpha 2 2 4-PH alpha-2 3 Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2 3 collagen prolyl 4-hydroxylase alpha(II) 2 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II 1 , 2 prolyl 4-hydroxylase, alpha II subunit 2 prolyl 4-hydroxylase, alpha polypeptide II 2
Search outside databases for aliases for P4HA2 genePrevious GC identifers: GC05M131050 GC05M131975 GC05M131558 GC05M131604
Summaries for P4HA2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for P4HA2 : This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composedof two identical alpha subunits and two beta subunits. The encoded protein is one of severaldifferent types of alpha subunits and provides the major part of the catalytic site of the activeenzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesizedprocollagen chains. Alternatively spliced transcript variants encoding different isoforms havebeen described. [provided by RefSeq] UniProtKB/Swiss-Prot: P4HA2_HUMAN, O15460 Function : Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequencesin collagens and other proteins
Gene Wiki entry for P4HA2
Genomic Location for P4HA2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the P4HA2 gene Entrez Gene cytogenetic band: 5q31 Ensembl cytogenetic band: 5q31.1 HGNC cytogenetic band: 5q31 P4HA2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 5 GeneLoc Exon Structure
GeneLoc location for GC05M131556:
(about GC identifiers )
Start:
131,555,430 bp from pter
End:
131,591,455 bp from pter
Size:
36,026 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000005.8 NT_034772.5 Proteins for P4HA2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: P4HA2_HUMAN, O15460 (See
protein sequence )Recommended Name: Prolyl 4-hydroxylase subunit alpha-2 precursor Size : 535 amino acids; 60902 Da
Cofactor : Binds 1 Fe(2+) ion per subunit (By similarity)
Cofactor : Ascorbate (By similarity)
Subunit : Heterotetramer of two alpha-2 chains and two beta chains (the beta chain is themulti-functional PDI)
Subcellular location : Endoplasmic reticulum lumen
Secondary accessions : Q8WWN0Alternative splicing : 2 isoforms : O15460-1 O15460-2
REFSEQ proteins (5 alternative transcripts):
NP_001017973.1 NP_001017974.1 NP_001136070.1 NP_001136071.1 NP_004190.1 ENSEMBL proteins: ENSP00000378593 ENSP00000166534 ENSP00000368379 ENSP00000384999 ENSP00000353772 ENSP00000368398 ENSP00000368394 ENSP00000351611 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005783 endoplasmic reticulum
IEA -- GO:0005788 endoplasmic reticulum lumen
IEA --
About this table Antibodies for P4HA2: Assays for P4HA2:
Protein
Domains/ Families for P4HA2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry O15460 ProtoNet protein and cluster: O15460
2 Blocks protein families : IPB006620 Prolyl 4-hydroxylase IPB013547 Prolyl 4-hydroxylase alpha-subunit UniProtKB/Swiss-Prot: P4HA2_HUMAN, O15460 Similarity : Belongs to the P4HA familySimilarity : Contains 1 PKHD (prolyl/lysyl hydroxylase) domainSimilarity : Contains 1 TPR repeat
Gene Function for P4HA2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
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Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5 ): NM_004199 Applied Biosystems Silencer ® siRNAs for P4HA2 Sigma-Aldrich siRNA and siRNA Panels for P4HA2 Sigma-Aldrich shRNA for P4HA2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 5 ): NM_001017973                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 5 ): NM_001017973                                  untagged cDNA clones in CMV expression vector (see all 5 ): NM_001017973  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004199 UniProtKB/Swiss-Prot: P4HA2_HUMAN, O15460 Function : Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequencesin collagens and other proteins Catalytic activity : Procollagen L-proline + 2-oxoglutarate + O(2) = procollagentrans-4-hydroxy-L-proline + succinate + CO(2) Enzyme Number (IUBMB): EC 1.14.11.2
Genatlas biochemistry entry for P4HA2 :procollagen-proline,2-oxoglutarate 4-dioxygenase (prolyl-4-hydroxylase),alpha polypeptide,isoform2,component of the heterodimer (alpha 2) 2,beta 2,type II,enzyme non inhibited by poly (L-proline) 1 MGI phenotypic allele for P4ha2 (no phenotypes)5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9
):
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Pathways & Interactions for P4HA2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for P4HA2 (Your Favorite Gene powered by Ingenuity) 5/19 Interacting proteins for P4HA2 (ENSP00000351611 3 O15460 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 19
)Interactant Interaction Details GeneCard External ID(s) ENSG00000206318 P48634 1 , 2 EBI-348033, EBI-347545 MINT-62798 MINT-62722 MINT-62624 ENSG00000206427 P48634 1 , 2 EBI-348033, EBI-347545 MINT-62798 MINT-62722 MINT-62624 BAT2 P48634 1 , 2 EBI-348033, EBI-347545 MINT-62798 MINT-62722 MINT-62624 EBI-348033, EBI-347545 MINT-62798 MINT-62722 MINT-62624 BAT2 P48634 1 , 2 EBI-348033, EBI-347545 MINT-62798 MINT-62722 MINT-62624 EBI-348033, EBI-347545 MINT-62798 MINT-62722 MINT-62624 P4HB ENSP00000327801 3 STRING (score=.957 )
About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline
IEA -- GO:0019538 protein metabolic process
IEA -- GO:0055114 oxidation reduction
IEA --
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Drugs & Compounds for P4HA2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for P4HA2
Transcripts for P4HA2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5 ): NM_004199 Sigma-Aldrich siRNA and siRNA Panels for P4HA2 Sigma-Aldrich shRNA for P4HA2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001017973 NM_001017974 NM_001142598 NM_001142599 NM_004199
REFSEQ mRNAs for P4HA2 gene (5 alternative transcripts): NM_001017973.1 NM_001017974.1 NM_001142598.1 NM_001142599.1 NM_004199.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001017973 NM_001017974 NM_001142598 NM_001142599 NM_004199
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 5 ): NM_001017973                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 5 ): NM_001017973                                  untagged cDNA clones in CMV expression vector (see all 5 ): NM_001017973  
Additional cDNA sequence: AY358970.1 BC017062.1 BC025960.1 BC035813.1 BX647924.1 U90441.1
19 DOTS entries : DT.217263 DT.40106425 DT.100811842 DT.101984633 DT.95069941 DT.100756949 DT.120834278 DT.120834223 DT.208457 DT.97846687 DT.92434008 DT.100811845 DT.120834286 DT.95069939 DT.120834215 DT.120834221 DT.95147380 DT.422196 DT.95106346
24/282 AceView cDNA sequences (see all 282
):AL709983 AW952029 CA447642 D11983 AA375513 BQ233400 BQ219610 CA432106 BE670401 AU122034 BX370420 BP372517 BP375206 BP362906 F10703 AL544836 BM704593 AW664288 AL711125 AU280794 AA569099 AI359372 BF447278 NM_004199
highest scoring ESTs for P4HA2 :AI752379 AL701939 AL709983 AL710717 AL710826 AU280794 AY358970 BC025960 BC035813 BG252333
Unigene Cluster for P4HA2: Prolyl 4-hydroxylase, alpha polypeptide II Hs.519568 [show with all ESTs ] Unigene Representative Sequence: NM_004199 GeneLoc Exon Structure 5/9 Alternative Splicing Database (ASD) splice patterns (SP) for P4HA2 (see all 9
) ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · SP1 :   -   -   -   -   -   -                             -   -     -       SP2 :         -   -   -                             -   -     -       SP3 :                                       -     -     -       SP4 :   -   -       -   -                                         SP5 :     -     -   -   -                                        
ExUns: 19b · 19c · 19d SP1 :       SP2 :       SP3 :       SP4 :       SP5 :      
About this scheme ECgene alternative splicing isoforms for P4HA2 8 Ensembl transcripts including schematic representations : ENST00000395164
ENST00000166534
ENST00000379086
ENST00000401867
ENST00000360568
ENST00000379104
ENST00000379100
ENST00000358760
Expression for P4HA2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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P4HA2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for P4HA2 1 / 2 / 3
4 probe-sets matching P4HA2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TTTGTTTTTASOURCE GeneReport for Unigene cluster: Hs.519568 Expression variation in blood from EXPOLDB for P4HA2
Orthologs for P4HA2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for P4HA2 gene from 5/11 species (see all 11
)
About this table Species with no ortholog for P4HA2 ENSEMBL Gene Tree for P4HA2 Paralogs for P4HA2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for P4HA2 gene P4HA1 2 P4HA3 2
SNPs/Variants for P4HA2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for P4HA2 (up to first 250kb)
Disorders & Mutations for P4HA2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 600608 Human Genome Epidemiology Navigator: P4HA2 (2 documents)
Medical News for P4HA2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for P4HA2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/17 PubMed articles for P4HA2 gene (see all 17
):
Search for P4HA2
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing P4HA2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing P4HA2
(According to HUGE )
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--
Specialized Databases showing P4HA2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for P4HA2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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