• Gene id: 8974

Gene Summary

• Gene Symbol: P4HA2   Gene   UCSC   Ensembl
• Aliases: MYP25
• Gene name: prolyl 4-hydroxylase subunit alpha 2
• Alternate names: prolyl 4-hydroxylase subunit alpha-2, 4-PH alpha 2, C-P4Halpha(II), collagen prolyl 4-hydroxylase alpha(II), procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II, procollagen-proline,2-oxoglutarate-4-dioxygenase subun,
• Gene location: 5q31.1 (132227852: 132190146)     Exons: 18     NC_000005.10
• Gene summary(Entrez): 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 o
• OMIM: 612034

Protein Summary

• Protein general information: O15460  
  • Name: Prolyl 4 hydroxylase subunit alpha 2 (4 PH alpha 2) (EC 1.14.11.2) (Procollagen proline,2 oxoglutarate 4 dioxygenase subunit alpha 2)
  • Length: 535  
  • Mass: 60902
• Sequence:

  MKLWVSALLMAWFGVLSCVQAEFFTSIGHMTDLIYAEKELVQSLKEYILVEEAKLSKIKSWANKMEALTSKSAAD
  AEGYLAHPVNAYKLVKRLNTDWPALEDLVLQDSAAGFIANLSVQRQFFPTDEDEIGAAKALMRLQDTYRLDPGTI
  SRGELPGTKYQAMLSVDDCFGMGRSAYNEGDYYHTVLWMEQVLKQLDAGEEATTTKSQVLDYLSYAVFQLGDLHR
  ALELTRRLLSLDPSHERAGGNLRYFEQLLEEEREKTLTNQTEAELATPEGIYERPVDYLPERDVYESLCRGEGVK
  LTPRRQKRLFCRYHHGNRAPQLLIAPFKEEDEWDSPHIVRYYDVMSDEEIERIKEIAKPKLARATVRDPKTGVLT
  VASYRVSKSSWLEEDDDPVVARVNRRMQHITGLTVKTAELLQVANYGVGGQYEPHFDFSRNDERDTFKHLGTGNR
  VATFLNYMSDVEAGGATVFPDLGAAIWPKKGTAVFWYNLLRSGEGDYRTRHAACPVLVGCKWVSNKWFHERGQEF
  LRPCGSTEVD

• Structural information:
  • Protein Domains: (412..52-)
    (/note="Fe2OG-dioxygenase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00805"-)
  • Interpro: IPR005123  IPR006620  IPR013547  IPR013026  IPR011990   IPR019734  
  • Prosite: PS51471 PS50005 PS50293
  • PDB: 6EVL 6EVM 6EVN 6EVO 6EVP
  • PDBsum: 6EVL 6EVM 6EVN 6EVO 6EVP
  • STRING: ENSP00000384999
• Other Databases: GeneCards:  P4HA2  Malacards:  P4HA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IBA	biological process
GO:0004656	procollagen-proline 4-dioxygenase activity	IBA	contributes to
GO:0005506	iron ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004656	procollagen-proline 4-dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004656	procollagen-proline 4-dioxygenase activity	TAS	molecular function
GO:0004656	procollagen-proline 4-dioxygenase activity	IEA	molecular function
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0022900	electron transport chain	IEA	biological process
GO:0009055	electron transfer activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00330	Arginine and proline metabolism

Diseases

Associated diseases	References
Myopia	KEGG:H02041
Myopia	KEGG:H02041
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881