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Aliases for P4HA2 Gene

Aliases for P4HA2 Gene

  • Prolyl 4-Hydroxylase Subunit Alpha 2 2 3
  • Prolyl 4-Hydroxylase, Alpha Polypeptide II 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
  • Collagen Prolyl 4-Hydroxylase Alpha(II) 2 3
  • 4-PH Alpha 2 2 3
  • 4-PH Alpha-2 3 4
  • EC 1.14.11.2 4 63
  • C-P4Halpha(II) 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 refractive error. Among its related pathways are Degradation of the extracellular matrix and Metabolism. GO annotations related to this gene include oxidoreductase activity and electron carrier activity. An important paralog of this gene is P4HA3.

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

Promoters for P4HA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around P4HA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for P4HA2 Gene

Chromosome:
5
Start:
132,191,838 bp from pter
End:
132,295,315 bp from pter
Size:
103,478 bases
Orientation:
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:
    O15460-P4HA2_HUMAN
    Recommended name:
    Prolyl 4-hydroxylase subunit alpha-2
    Protein Accession:
    O15460
    Secondary Accessions:
    • D3DQ85
    • D3DQ86
    • Q8WWN0

    Protein attributes for P4HA2 Gene

    Size:
    535 amino acids
    Molecular mass:
    60902 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for P4HA2 Gene

Proteomics data for P4HA2 Gene at MOPED

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

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for P4HA2

Domains & Families for P4HA2 Gene

Suggested Antigen Peptide Sequences for P4HA2 Gene

Graphical View of Domain Structure for InterPro Entry

O15460

UniProtKB/Swiss-Prot:

P4HA2_HUMAN :
  • Contains 1 Fe2OG dioxygenase domain.
  • Belongs to the P4HA family.
  • Contains 1 TPR repeat.
Domain:
  • Contains 1 Fe2OG dioxygenase domain.
Family:
  • Belongs to the P4HA family.
Similarity:
  • 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:0009055 electron carrier activity TAS 9211872
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular 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

In Situ Assay 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

COMPARTMENTS
Jensen Localization Image for P4HA2 Gene COMPARTMENTS Subcellular localization image for P4HA2 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 4
cytosol 2
extracellular 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for P4HA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

None

No data available for SIGNOR curated interactions for P4HA2 Gene

Drugs & Compounds for P4HA2 Gene

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

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
hydroxyproline Approved, Experimental Pharma 0
Vitamin C Approved Nutra 424,424
DMOG Pharma Competitive HIF-PH inhibitor, cell-permeable, Prolyl hydroxylase inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7

(1) ApexBio Compounds for P4HA2 Gene

Compound Action Cas Number
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:

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: -
SP9:

ExUns: 19b · 19c · 19d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for P4HA2 Gene

GeneLoc Exon Structure for
P4HA2
ECgene alternative splicing isoforms for
P4HA2

Expression for P4HA2 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for P4HA2 Gene



SOURCE GeneReport for Unigene cluster for P4HA2 Gene Hs.519568

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

Protein tissue co-expression partners for P4HA2 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia P4HA2 35
  • 90.78 (n)
  • 94.21 (a)
P4HA2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia P4HA2 35
  • 91.4 (n)
  • 94.58 (a)
P4HA2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia P4ha2 35
  • 86.67 (n)
  • 91.96 (a)
P4ha2 16
P4ha2 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia P4HA2 35
  • 99.56 (n)
  • 99.63 (a)
P4HA2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia P4ha2 35
  • 86.17 (n)
  • 92.9 (a)
oppossum
(Monodelphis domestica)
Mammalia P4HA2 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia P4HA2 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves P4HA2 35
  • 72.43 (n)
  • 79.89 (a)
P4HA2 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia P4HA2 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia p4ha2 35
  • 66.15 (n)
  • 69.67 (a)
Str.10611 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15069 35
zebrafish
(Danio rerio)
Actinopterygii p4ha2 35
  • 69.51 (n)
  • 71.83 (a)
p4ha2 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG15539 37
  • 29 (a)
CG18233 37
  • 26 (a)
CG18749 37
  • 28 (a)
CG9698 37
  • 30 (a)
PH4alphaEFB 37
  • 50 (a)
PH4alphaMP 37
  • 35 (a)
PH4alphaNE1 37
  • 35 (a)
PH4alphaNE2 37
  • 29 (a)
PH4alphaSG2 37
  • 32 (a)
PH4alphaEFB 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea phy-2 37
  • 45 (a)
dpy-18 36
  • 39 (a)
ManyToMany
phy-2 36
  • 44 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
Species with no ortholog for P4HA2:
  • 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

ENSEMBL:
Gene Tree for P4HA2 (if available)
TreeFam:
Gene Tree for P4HA2 (if available)

Paralogs for P4HA2 Gene

Paralogs for P4HA2 Gene

Pseudogenes.org 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
VAR_074026 -
VAR_074027 -
VAR_074028 -
rs15826 -- 132,198,891(-) CACTT(C/T)GACTT reference, synonymous-codon
rs128738 -- 132,205,182(+) ATCCT(G/T)TGGAA 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

HapMap Linkage Disequilibrium report
P4HA2
Human Gene Mutation Database (HGMD)
P4HA2

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

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

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

UniProtKB/Swiss-Prot

P4HA2_HUMAN
  • 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)
P4HA2
Human Genome Epidemiology (HuGE) Navigator
P4HA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
P4HA2
genes like me logo Genes that share disorders with P4HA2: view

No data available for Genatlas for P4HA2 Gene

Publications for P4HA2 Gene

  1. 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 67
  2. 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 23
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3

Products for P4HA2 Gene

Sources for P4HA2 Gene

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