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 ... See more...

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
  • Prolyl 4-Hydroxylase Subunit Alpha-2 3 4
  • 4-PH Alpha 2 2 3
  • EC 1.14.11.2 4 52
  • 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 25, Autosomal Dominant and Myopia. Among its related pathways are Arginine and proline metabolism and Amino Acid metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and electron transfer activity. An important paralog of this gene is P4HA1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for P4HA2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for P4HA2 Gene

Genomics for P4HA2 Gene

GeneHancer (GH) Regulatory Elements for P4HA2 Gene

Promoters and enhancers for P4HA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around P4HA2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for P4HA2

Top Transcription factor binding sites by QIAGEN in the P4HA2 gene promoter:
  • AhR
  • Arnt
  • Lmo2
  • NF-1
  • NF-1/L
  • SRF (504 AA)

Genomic Locations for P4HA2 Gene

Genomic Locations for P4HA2 Gene
chr5:132,191,838-132,295,315
(GRCh38/hg38)
Size:
103,478 bases
Orientation:
Minus strand
chr5:131,527,531-131,631,008
(GRCh37/hg19)
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).

    Three dimensional structures from OCA and Proteopedia for P4HA2 Gene

    Alternative splice isoforms for P4HA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for P4HA2 Gene

Selected DME Specific Peptides for P4HA2 Gene

O15460:
  • GGQYEPHFDF
  • GNRVATF
  • LQVANYG
  • LDYLSYAV
  • GTAVFWYN
  • KWVSNKW

Post-translational modifications for P4HA2 Gene

  • Glycosylation at Asn115 and Asn264
  • Ubiquitination at Lys134
  • Modification sites at PhosphoSitePlus

Domains & Families for P4HA2 Gene

Gene Families for P4HA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for P4HA2 Gene

Blocks:
  • Prolyl 4-hydroxylase, alpha subunit
  • Prolyl 4-hydroxylase alpha-subunit, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for P4HA2 Gene

GenScript: Design optimal peptide antigens:
  • Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2 (P4HA2_HUMAN)
  • P4HA2 protein (Q05DA4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15460

UniProtKB/Swiss-Prot:

P4HA2_HUMAN :
  • Belongs to the P4HA family.
Family:
  • Belongs to the P4HA family.
genes like me logo Genes that share domains with P4HA2: view

Function for P4HA2 Gene

Molecular function for P4HA2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-prolyl-[procollagen] + O2 = CO2 + succinate + trans-4-hydroxy-L-prolyl-[procollagen]; Xref=Rhea:RHEA:18945, Rhea:RHEA-COMP:11676, Rhea:RHEA-COMP:11680, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:50342, ChEBI:CHEBI:61965; EC=1.14.11.2;.
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)

Enzyme Numbers (IUBMB) for P4HA2 Gene

Phenotypes From GWAS Catalog for P4HA2 Gene

Gene Ontology (GO) - Molecular Function for P4HA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004656 contributes_to procollagen-proline 4-dioxygenase activity IBA 21873635
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IEA --
GO:0009055 electron transfer activity TAS 9211872
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with P4HA2: view
genes like me logo Genes that share phenotypes with P4HA2: view

Human Phenotype Ontology for P4HA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for P4HA2

CRISPR Products

miRNA for P4HA2 Gene

miRTarBase miRNAs that target P4HA2

Clone Products

No data available for 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
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
nucleus 4
cytosol 4
extracellular 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for P4HA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005783 endoplasmic reticulum IBA,IDA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005829 cytosol IDA --
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:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline IBA 21873635
GO:0019511 peptidyl-proline hydroxylation IEA --
GO:0022900 electron transport chain 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Iron Approved, Experimental Pharma 1496
Oxygen Approved, Vet_approved Pharma 0
Vitamin C Approved Nutra 739,739

(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

Drug Products

Transcripts for P4HA2 Gene

mRNA/cDNA for P4HA2 Gene

9 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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: -
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

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, MaxQB, and MOPED for P4HA2 Gene



Protein tissue co-expression partners for P4HA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for P4HA2

SOURCE GeneReport for Unigene cluster for P4HA2 Gene:

Hs.519568

Evidence on tissue expression from TISSUES for P4HA2 Gene

  • Nervous system(4.6)
  • Lung(4.3)
  • Kidney(2)
genes like me logo Genes that share expression patterns with P4HA2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia P4HA2 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia P4HA2 31 30
  • 91.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia P4HA2 31 30
  • 90.78 (n)
OneToOne
mouse
(Mus musculus)
Mammalia P4ha2 17 31 30
  • 86.67 (n)
rat
(Rattus norvegicus)
Mammalia P4ha2 30
  • 86.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia P4HA2 31
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia P4HA2 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves P4HA2 31 30
  • 72.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia P4HA2 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia p4ha2 30
  • 66.15 (n)
Str.10611 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15069 30
zebrafish
(Danio rerio)
Actinopterygii p4ha2 31 30
  • 69.51 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta PH4alphaEFB 31 32
  • 45 (a)
OneToMany
PH4alphaNE1 32
  • 35 (a)
PH4alphaMP 32
  • 35 (a)
PH4alphaSG2 32
  • 32 (a)
CG9698 32
  • 30 (a)
CG15539 32
  • 29 (a)
PH4alphaNE2 32
  • 29 (a)
CG18749 32
  • 28 (a)
CG18233 32
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea phy-2 31 32
  • 44 (a)
ManyToMany
dpy-18 31
  • 39 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
-- 31
  • 32 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for P4HA2 (if available)
TreeFam:
Gene Tree for P4HA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for P4HA2: view image

Paralogs for P4HA2 Gene

Paralogs for P4HA2 Gene

(3) SIMAP similar genes for P4HA2 Gene using alignment to 11 proteins:

  • P4HA2_HUMAN
  • A8MXE0_HUMAN
  • C9JCP0_HUMAN
  • C9JFJ1_HUMAN
  • C9JIG4_HUMAN
  • C9JN43_HUMAN
  • C9JX45_HUMAN
  • E7ENX0_HUMAN
  • E7EPI9_HUMAN
  • E7ERI1_HUMAN
  • Q05DA4_HUMAN

Pseudogenes.org Pseudogenes for P4HA2 Gene

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

Variants for P4HA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for P4HA2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
708428 Likely Benign: not provided 132,198,270(-) T/C MISSENSE_VARIANT,INTRON_VARIANT
711932 Likely Benign: not provided 132,198,205(-) C/T SPLICE_DONOR_VARIANT,INTRON_VARIANT
721479 Likely Benign: not provided 132,218,564(-) G/A SYNONYMOUS_VARIANT
731435 Likely Benign: not provided 132,203,769(-) T/C SYNONYMOUS_VARIANT
732289 Benign: not provided 132,210,339(-) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for P4HA2 Gene

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)

Additional Variant Information for P4HA2 Gene

Human Gene Mutation Database (HGMD)
P4HA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
P4HA2

SNP Genotyping and Copy Number Assay Products

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

(7) MalaCards diseases for P4HA2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- 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
  • Myopia 25, autosomal dominant (MYP25) [MIM:617238]: 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for P4HA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 MS … NIDDK IBD Genetics Consortium (European journal of human genetics : EJHG 2007) 3 23 41 54
  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 KI (The Journal of biological chemistry 1997) 2 3 4 54
  3. Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia. (PMID: 25741866) Guo H … Xia K (Genetics in medicine : official journal of the American College of Medical Genetics 2015) 3 4 54
  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 SE … Australian Cancer Study (Ovarian Cancer) (PLoS genetics 2010) 3 41 54
  5. Genetic association study for RSV bronchiolitis in infancy at the 5q31 cytokine cluster. (PMID: 19131452) Forton JT … Hull J (Thorax 2009) 3 41 54

Products for P4HA2 Gene