Human Gene P4HA2 (ENST00000379104.7_10) from GENCODE V47lift37

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Description: prolyl 4-hydroxylase subunit alpha 2, transcript variant 6 (from RefSeq NM_001365677.2)
Gencode Transcript: ENST00000379104.7_10
Gencode Gene: ENSG00000072682.20_21
Transcript (Including UTRs)
Position: hg19 chr5:131,525,840-131,563,546 Size: 37,707 Total Exon Count: 15 Strand: -
Coding Region
Position: hg19 chr5:131,528,703-131,554,319 Size: 25,617 Coding Exon Count: 14

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr5:131,525,840-131,563,546)			mRNA (may differ from genome)		Protein (535 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	Reactome
UniProtKB	Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: P4HA2_HUMAN DESCRIPTION: RecName: Full=Prolyl 4-hydroxylase subunit alpha-2; Short=4-PH alpha-2; EC=1.14.11.2; AltName: Full=Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2; Flags: Precursor; FUNCTION: Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. CATALYTIC ACTIVITY: L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-4-hydroxy-L-proline-[procollagen] + succinate + CO(2). 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 the multi-functional PDI). SUBCELLULAR LOCATION: Endoplasmic reticulum lumen. SIMILARITY: Belongs to the P4HA family. SIMILARITY: Contains 1 Fe2OG dioxygenase domain. SIMILARITY: Contains 1 TPR repeat.

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: P4HA2 Diseases sorted by gene-association score: myopia 25, autosomal dominant* (1230), myopia (11), refractive error (3) * = Manually curated disease association

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D013749 Tetrachlorodibenzodioxin D000082 Acetaminophen D010100 Oxygen C022838 nickel chloride C025205 1,10-phenanthroline C016403 2,4-dinitrotoluene C023514 2,6-dinitrotoluene C547126 AZM551248 D016604 Aflatoxin B1 D001205 Ascorbic Acid more ... click here to view the complete list

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 15.70 RPKM in Cells - Cultured fibroblasts Total median expression: 220.06 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-32.90	82	-0.401	Picture	PostScript	Text
3' UTR	-749.64	2863	-0.262	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR005123 - Oxoglu/Fe-dep_dioxygenase
IPR006620 - Pro_4_hyd_alph
IPR013547 - Pro_4_hyd_alph_N
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR019734 - TPR_repeat

Pfam Domains:
PF03171 - 2OG-Fe(II) oxygenase superfamily
PF08336 - Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
PF13640 - 2OG-Fe(II) oxygenase superfamily

SCOP Domains:
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like

ModBase Predicted Comparative 3D Structure on O15460


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0004656 procollagen-proline 4-dioxygenase activity GO:0005506 iron ion binding GO:0005515 protein binding GO:0009055 electron carrier activity GO:0016491 oxidoreductase activity GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0031418 L-ascorbic acid binding GO:0046872 metal ion binding GO:0051213 dioxygenase activity Biological Process: GO:0019511 peptidyl-proline hydroxylation GO:0022900 electron transport chain GO:0055114 oxidation-reduction process Cellular Component: GO:0005654 nucleoplasm GO:0005783 endoplasmic reticulum GO:0005788 endoplasmic reticulum lumen GO:0005829 cytosol GO:0043231 intracellular membrane-bounded organelle

Descriptions from all associated GenBank mRNAs


	BC013423 - Homo sapiens, clone IMAGE:3892140, mRNA. LF209071 - JP 2014500723-A/16574: Polycomb-Associated Non-Coding RNAs. U90441 - Human prolyl 4-hydroxylase alpha (II) subunit mRNA, complete cds. BC017062 - Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II, mRNA (cDNA clone MGC:9540 IMAGE:3847723), complete cds. BC025960 - Homo sapiens cDNA clone IMAGE:4864251, containing frame-shift errors. BX647924 - Homo sapiens mRNA; cDNA DKFZp686M0919 (from clone DKFZp686M0919). AY358970 - Homo sapiens clone DNA40603 P4HA2 (UNQ290) mRNA, complete cds. BC035813 - Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II, mRNA (cDNA clone MGC:46171 IMAGE:5753499), complete cds. LF325797 - JP 2014500723-A/133300: Polycomb-Associated Non-Coding RNAs. JD045974 - Sequence 26998 from Patent EP1572962. JD136745 - Sequence 117769 from Patent EP1572962. JD296153 - Sequence 277177 from Patent EP1572962. JD051268 - Sequence 32292 from Patent EP1572962. LF325796 - JP 2014500723-A/133299: Polycomb-Associated Non-Coding RNAs. JD246111 - Sequence 227135 from Patent EP1572962. KJ892663 - Synthetic construct Homo sapiens clone ccsbBroadEn_02057 P4HA2 gene, encodes complete protein. KJ901929 - Synthetic construct Homo sapiens clone ccsbBroadEn_11323 P4HA2 gene, encodes complete protein. DQ892431 - Synthetic construct clone IMAGE:100005061; FLH186270.01X; RZPDo839C0971D procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II (P4HA2) gene, encodes complete protein. EU176519 - Synthetic construct Homo sapiens clone IMAGE:100011494; FLH186269.01L; RZPDo839C06253D procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II (P4HA2) gene, encodes complete protein. LF325795 - JP 2014500723-A/133298: Polycomb-Associated Non-Coding RNAs. LF325794 - JP 2014500723-A/133297: Polycomb-Associated Non-Coding RNAs. LF325792 - JP 2014500723-A/133295: Polycomb-Associated Non-Coding RNAs. LF325790 - JP 2014500723-A/133293: Polycomb-Associated Non-Coding RNAs. JD023209 - Sequence 4233 from Patent EP1572962. JD032608 - Sequence 13632 from Patent EP1572962. LF325789 - JP 2014500723-A/133292: Polycomb-Associated Non-Coding RNAs. CU690210 - Synthetic construct Homo sapiens gateway clone IMAGE:100019806 5' read P4HA2 mRNA. JD025700 - Sequence 6724 from Patent EP1572962. JD030995 - Sequence 12019 from Patent EP1572962. LF325788 - JP 2014500723-A/133291: Polycomb-Associated Non-Coding RNAs. LF325785 - JP 2014500723-A/133288: Polycomb-Associated Non-Coding RNAs. LF212388 - JP 2014500723-A/19891: Polycomb-Associated Non-Coding RNAs. MA561374 - JP 2018138019-A/133300: Polycomb-Associated Non-Coding RNAs. MA561373 - JP 2018138019-A/133299: Polycomb-Associated Non-Coding RNAs. MA561372 - JP 2018138019-A/133298: Polycomb-Associated Non-Coding RNAs. MA561371 - JP 2018138019-A/133297: Polycomb-Associated Non-Coding RNAs. MA561369 - JP 2018138019-A/133295: Polycomb-Associated Non-Coding RNAs. MA561367 - JP 2018138019-A/133293: Polycomb-Associated Non-Coding RNAs. MA561366 - JP 2018138019-A/133292: Polycomb-Associated Non-Coding RNAs. MA561365 - JP 2018138019-A/133291: Polycomb-Associated Non-Coding RNAs. MA561362 - JP 2018138019-A/133288: Polycomb-Associated Non-Coding RNAs. MA444648 - JP 2018138019-A/16574: Polycomb-Associated Non-Coding RNAs. MA447965 - JP 2018138019-A/19891: Polycomb-Associated Non-Coding RNAs.

Biochemical and Signaling Pathways


	BioCyc Knowledge Library PWY-7894 - procollagen hydroxylation and glycosylation Reactome (by CSHL, EBI, and GO) Protein O15460 (Reactome details) participates in the following event(s): R-HSA-1650808 Prolyl 4-hydroxylase converts collagen prolines to 4-hydroxyprolines R-HSA-1650814 Collagen biosynthesis and modifying enzymes R-HSA-1474290 Collagen formation R-HSA-1474244 Extracellular matrix organization

Other Names for This Gene


	Alternate Gene Symbols: D3DQ85, D3DQ86, ENST00000379104.1, ENST00000379104.2, ENST00000379104.3, ENST00000379104.4, ENST00000379104.5, ENST00000379104.6, NM_001365677, O15460, P4HA2_HUMAN, Q8WWN0, uc318otf.1, uc318otf.2, UNQ290/PRO330 UCSC ID: ENST00000379104.7_10 RefSeq Accession: NM_001365677.2 Protein: O15460 (aka P4HA2_HUMAN or P4H2_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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