• Gene id: 27068

Gene Summary

• Gene Symbol: PPA2   Gene   UCSC   Ensembl
• Aliases: HSPC124, SCFAI, SCFI, SID6-306
• Gene name: inorganic pyrophosphatase 2
• Alternate names: inorganic pyrophosphatase 2, mitochondrial, PPase 2, pyrophosphatase (inorganic) 2, pyrophosphatase SID6-306, pyrophosphate phospho-hydrolase 2,
• Gene location: 4q24 (105474069: 105369076)     Exons: 12     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrol
• OMIM: 609988

Protein Summary

• Protein general information: Q9H2U2  
  • Name: Inorganic pyrophosphatase 2, mitochondrial (EC 3.6.1.1) (Pyrophosphatase SID6 306) (Pyrophosphate phospho hydrolase 2) (PPase 2)
  • Length: 334  
  • Mass: 37920
  • Tissue specificity: Detected in brain, gastric carcinoma, lung, ovary, skeletal muscle, umbilical cord blood and a cell line derived from kidney proximal tubule epithelium. {ECO
• Sequence:

  MSALLRLLRTGAPAAACLRLGTSAGTGSRRAMALYHTEERGQPCSQNYRLFFKNVTGHYISPFHDIPLKVNSKEE
  NGIPMKKARNDEYENLFNMIVEIPRWTNAKMEIATKEPMNPIKQYVKDGKLRYVANIFPYKGYIWNYGTLPQTWE
  DPHEKDKSTNCFGDNDPIDVCEIGSKILSCGEVIHVKILGILALIDEGETDWKLIAINANDPEASKFHDIDDVKK
  FKPGYLEATLNWFRLYKVPDGKPENQFAFNGEFKNKAFALEVIKSTHQCWKALLMKKCNGGAINCTNVQISDSPF
  RCTQEEARSLVESVSSSPNKESNEEEQVWHFLGK

• Structural information:
  • Interpro: IPR008162  IPR036649  
  • Prosite: PS00387
  • CDD: cd00412
  • STRING: ENSP00000343885
• Other Databases: GeneCards:  PPA2  Malacards:  PPA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006796	phosphate-containing compound metabolic process	IBA	biological process
GO:0004427	inorganic diphosphatase activity	IBA	molecular function
GO:0004427	inorganic diphosphatase activity	IDA	molecular function
GO:0051881	regulation of mitochondrial membrane potential	IMP	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0006796	phosphate-containing compound metabolic process	IEA	biological process
GO:0004427	inorganic diphosphatase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004427	inorganic diphosphatase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0071344	diphosphate metabolic process	TAS	biological process
GO:0004722	protein serine/threonine phosphatase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006470	protein dephosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00190	Oxidative phosphorylation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 21412036
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq