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Aliases for P4HA2 Gene

Aliases for P4HA2 Gene

  • Prolyl 4-Hydroxylase Subunit Alpha 2 2 3 5
  • Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Alpha Polypeptide II 2 3
  • Procollagen-Proline,2-Oxoglutarate-4-Dioxygenase Subunit Alpha-2 3 4
  • Prolyl 4-Hydroxylase, Alpha Polypeptide II 2 3
  • Collagen Prolyl 4-Hydroxylase Alpha(II) 2 3
  • 4-PH Alpha 2 2 3
  • EC 4 61
  • Prolyl 4-Hydroxylase Subunit Alpha-2 3
  • C-P4Halpha(II) 3
  • 4-PH Alpha-2 4
  • MYP25 3

External Ids for P4HA2 Gene

Previous GeneCards Identifiers for P4HA2 Gene

  • GC05M131050
  • GC05M131975
  • GC05M131558
  • GC05M131604
  • GC05M131556
  • GC05M126720
  • GC05M131531

Summaries for P4HA2 Gene

Entrez Gene Summary for P4HA2 Gene

  • This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for P4HA2 Gene

P4HA2 (Prolyl 4-Hydroxylase Subunit Alpha 2) is a Protein Coding gene. Diseases associated with P4HA2 include Myopia and Refractive Error. Among its related pathways are Arginine and proline metabolism and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include oxidoreductase activity and electron carrier activity. An important paralog of this gene is P4HA1.

UniProtKB/Swiss-Prot for P4HA2 Gene

  • Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.

Gene Wiki entry for P4HA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P4HA2 Gene

Genomics for P4HA2 Gene

Regulatory Elements for P4HA2 Gene

Enhancers for P4HA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F132262 2 VISTA FANTOM5 Ensembl ENCODE 37.9 +29.0 29026 7.4 HDGF PKNOX1 SIN3A RAD21 RARA RFX5 ZNF366 SCRT2 ZNF143 RCOR1 P4HA2 LOC553103 SLC22A4 SLC22A5 RAD50 RAPGEF6 GC05M132271 PDLIM4
GH05F132224 1.3 FANTOM5 ENCODE 45.7 +69.0 69022 4.5 ATF1 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF48 GLIS2 P4HA2 LOC553103 PDLIM4 CSF2 IL3 MIR6830
GH05F132257 1.3 FANTOM5 ENCODE 38 +35.7 35659 5.3 ZNF133 SIN3A GLIS2 EGR1 SCRT2 FOS EGR2 SMARCA5 SP5 ZEB2 P4HA2 LOC553103 PDLIM4 SLC22A4 SLC22A5 KIF3A GC05M132271
GH05F132252 1 Ensembl ENCODE 33 +41.5 41540 2.5 CTCF KLF1 PKNOX1 ARID4B ZNF2 RAD21 DNMT3B ZNF143 SMC3 ZNF207 P4HA2 LOC553103 SLC22A4 SLC22A5 PDLIM4 MIR6830
GH05F132250 0.6 Ensembl ENCODE 40.1 +44.0 43952 1.5 FOS P4HA2 SLC22A4 SLC22A5 PDLIM4 MIR6830
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around P4HA2 on UCSC Golden Path with GeneCards custom track

Promoters for P4HA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001873750 1015 2601 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF548

Genomic Location for P4HA2 Gene

132,191,838 bp from pter
132,295,315 bp from pter
103,478 bases
Minus strand

Genomic View for P4HA2 Gene

Genes around P4HA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P4HA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for P4HA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P4HA2 Gene

Proteins for P4HA2 Gene

  • Protein details for P4HA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Prolyl 4-hydroxylase subunit alpha-2
    Protein Accession:
    Secondary Accessions:
    • D3DQ85
    • D3DQ86
    • Q8WWN0

    Protein attributes for P4HA2 Gene

    535 amino acids
    Molecular mass:
    60902 Da
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    • Heterotetramer of two alpha-2 chains and two beta chains (the beta chain is the multi-functional PDI).

    Alternative splice isoforms for P4HA2 Gene


neXtProt entry for P4HA2 Gene

Selected DME Specific Peptides for P4HA2 Gene


Post-translational modifications for P4HA2 Gene

  • Ubiquitination at Lys 134
  • Glycosylation at Asn 115 and Asn 264
  • Modification sites at PhosphoSitePlus

Domains & Families for P4HA2 Gene

Suggested Antigen Peptide Sequences for P4HA2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 Fe2OG dioxygenase domain.
  • Belongs to the P4HA family.
  • Contains 1 TPR repeat.
  • Contains 1 Fe2OG dioxygenase domain.
  • Belongs to the P4HA family.
  • Contains 1 TPR repeat.
genes like me logo Genes that share domains with P4HA2: view

No data available for Gene Families for P4HA2 Gene

Function for P4HA2 Gene

Molecular function for P4HA2 Gene

GENATLAS Biochemistry:
procollagen-proline,2-oxoglutarate 4-dioxygenase (prolyl-4-hydroxylase),alpha polypeptide,isoform 2,component of the heterodimer (alpha 2) 2,beta 2,type II,enzyme non inhibited by poly (L-proline)
UniProtKB/Swiss-Prot CatalyticActivity:
L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-4-hydroxy-L-proline-[procollagen] + succinate + CO(2).
UniProtKB/Swiss-Prot Function:
Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.

Enzyme Numbers (IUBMB) for P4HA2 Gene

Gene Ontology (GO) - Molecular Function for P4HA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004656 procollagen-proline 4-dioxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0009055 electron carrier activity TAS 9211872
GO:0016491 oxidoreductase activity IEA --
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA --
genes like me logo Genes that share ontologies with P4HA2: view
genes like me logo Genes that share phenotypes with P4HA2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for P4HA2

miRNA for P4HA2 Gene

miRTarBase miRNAs that target P4HA2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for P4HA2 Gene

Localization for P4HA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P4HA2 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for P4HA2 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
nucleus 4
extracellular 2
lysosome 1

Gene Ontology (GO) - Cellular Components for P4HA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005788 endoplasmic reticulum lumen IEA,TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with P4HA2: view

Pathways & Interactions for P4HA2 Gene

genes like me logo Genes that share pathways with P4HA2: view

Pathways by source for P4HA2 Gene

Gene Ontology (GO) - Biological Process for P4HA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019511 peptidyl-proline hydroxylation IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with P4HA2: view

No data available for SIGNOR curated interactions for P4HA2 Gene

Drugs & Compounds for P4HA2 Gene

(9) Drugs for P4HA2 Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra Target 0
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Carbon dioxide Approved, Vet_approved Pharma 0
hydroxyproline Approved, Experimental Pharma 0
Oxygen Approved, Vet_approved Pharma 0

(2) Additional Compounds for P4HA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate

(3) ApexBio Compounds for P4HA2 Gene

Compound Action Cas Number
Collagen proline hydroxylase inhibitor Collagen proline hydroxylase inhibitor 223666-07-7
Collagen proline hydroxylase inhibitor-1 223663-32-9
DMOG Competitive HIF-PH inhibitor, cell-permeable 89464-63-1
genes like me logo Genes that share compounds with P4HA2: view

Transcripts for P4HA2 Gene

Unigene Clusters for P4HA2 Gene

Prolyl 4-hydroxylase, alpha polypeptide II:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for P4HA2 Gene

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: - - - -
SP6: -
SP7: - - -
SP8: -

ExUns: 19b · 19c · 19d

Relevant External Links for P4HA2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for P4HA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for P4HA2 Gene

Protein differential expression in normal tissues from HIPED for P4HA2 Gene

This gene is overexpressed in Liver (51.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for P4HA2 Gene

Protein tissue co-expression partners for P4HA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of P4HA2 Gene:


SOURCE GeneReport for Unigene cluster for P4HA2 Gene:

genes like me logo Genes that share expression patterns with P4HA2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for P4HA2 Gene

Orthologs for P4HA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for P4HA2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia P4HA2 34 35
  • 99.56 (n)
(Canis familiaris)
Mammalia P4HA2 34 35
  • 91.4 (n)
(Bos Taurus)
Mammalia P4HA2 34 35
  • 90.78 (n)
(Mus musculus)
Mammalia P4ha2 34 16 35
  • 86.67 (n)
(Rattus norvegicus)
Mammalia P4ha2 34
  • 86.17 (n)
(Ornithorhynchus anatinus)
Mammalia P4HA2 35
  • 84 (a)
(Monodelphis domestica)
Mammalia P4HA2 35
  • 78 (a)
(Gallus gallus)
Aves P4HA2 34 35
  • 72.43 (n)
(Anolis carolinensis)
Reptilia P4HA2 35
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia p4ha2 34
  • 66.15 (n)
Str.10611 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15069 34
(Danio rerio)
Actinopterygii p4ha2 34 35
  • 69.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta PH4alphaEFB 36 35
  • 50 (a)
PH4alphaMP 36
  • 35 (a)
PH4alphaNE1 36
  • 35 (a)
PH4alphaSG2 36
  • 32 (a)
CG9698 36
  • 30 (a)
CG15539 36
  • 29 (a)
PH4alphaNE2 36
  • 29 (a)
CG18749 36
  • 28 (a)
CG18233 36
  • 26 (a)
(Caenorhabditis elegans)
Secernentea phy-2 36 35
  • 45 (a)
dpy-18 35
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
-- 35
  • 35 (a)
-- 35
  • 35 (a)
-- 35
  • 32 (a)
Species where no ortholog for P4HA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for P4HA2 Gene

Gene Tree for P4HA2 (if available)
Gene Tree for P4HA2 (if available)

Paralogs for P4HA2 Gene

Paralogs for P4HA2 Gene Pseudogenes for P4HA2 Gene

genes like me logo Genes that share paralogs with P4HA2: view

Variants for P4HA2 Gene

Sequence variations from dbSNP and Humsavar for P4HA2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10052046 -- 132,208,773(+) CGCTG(G/T)TGTCT intron-variant
rs10065782 -- 132,216,965(+) GACAC(C/T)AAAAA intron-variant
rs10075459 -- 132,205,670(+) TGGAC(C/G)AACTT intron-variant
rs1008564 -- 132,220,120(+) AGAGA(C/G)CAAGT intron-variant, upstream-variant-2KB
rs10520127 -- 132,203,562(-) TTAGT(A/G)TTCAA intron-variant

Variation tolerance for P4HA2 Gene

Residual Variation Intolerance Score: 31.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for P4HA2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for P4HA2 Gene

Disorders for P4HA2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for P4HA2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
  • near vision
refractive error
  • refractive errors
- elite association - COSMIC cancer census association via MalaCards
Search P4HA2 in MalaCards View complete list of genes associated with diseases


  • Note=P4HA2 mutations may be a cause of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. {ECO:0000269 PubMed:25741866}.

Relevant External Links for P4HA2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with P4HA2: view

No data available for Genatlas for P4HA2 Gene

Publications for P4HA2 Gene

  1. Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease. (PMID: 17213842) Silverberg M.S. … Daly M.J. (Eur. J. Hum. Genet. 2007) 3 22 46 64
  2. Cloning of the human prolyl 4-hydroxylase alpha subunit isoform alpha(II) and characterization of the type II enzyme tetramer. The alpha(I) and alpha(II) subunits do not form a mixed alpha(I)alpha(II)beta2 tetramer. (PMID: 9211872) Annunen P. … Kivirikko K.I. (J. Biol. Chem. 1997) 2 3 4 64
  3. Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia. (PMID: 25741866) Guo H. … Xia K. (Genet. Med. 2015) 3 4 64
  4. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". (PMID: 20628624) Johnatty S.E. … . (PLoS Genet. 2010) 3 46 64
  5. Genetic association study for RSV bronchiolitis in infancy at the 5q31 cytokine cluster. (PMID: 19131452) Forton J.T. … Hull J. (Thorax 2009) 3 46 64

Products for P4HA2 Gene

Sources for P4HA2 Gene

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