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PPA2 (inorganic pyrophosphatase 2)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27068
Gene nameGene Name - the full gene name approved by the HGNC.
Inorganic pyrophosphatase 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PPA2
SynonymsGene synonyms aliases
HSPC124, SCFAI, SCFI, SID6-306
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q24
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs138215926 G>A Pathogenic Missense variant, coding sequence variant
rs139076647 C>A,T Likely-pathogenic Missense variant, coding sequence variant, intron variant
rs146013446 C>T Likely-pathogenic, pathogenic Missense variant, intron variant, coding sequence variant
rs151331559 G>A,C,T Pathogenic, likely-pathogenic Coding sequence variant, missense variant, stop gained
rs546693824 G>A Pathogenic Missense variant, intron variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT016388 hsa-miR-193b-3p Proteomics 21512034
MIRT023639 hsa-miR-1-3p Proteomics 18668040
MIRT1251165 hsa-miR-4677-3p CLIP-seq
MIRT1251166 hsa-miR-4679 CLIP-seq
MIRT1251167 hsa-miR-3074-3p CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IBA 21873635
GO:0004427 Function Inorganic diphosphatase activity IBA 21873635
GO:0004427 Function Inorganic diphosphatase activity IDA 27523597
GO:0004722 Function Protein serine/threonine phosphatase activity IEA
GO:0005759 Component Mitochondrial matrix TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H2U2
Protein name Inorganic pyrophosphatase 2, mitochondrial (EC 3.6.1.1) (Pyrophosphatase SID6-306) (Pyrophosphate phospho-hydrolase 2) (PPase 2)
Protein function Hydrolyzes inorganic pyrophosphate (PubMed:27523597). This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function (PubMed:27523598). {ECO:0000269|PubMed:27523597, ECO:0000269
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00719 Pyrophosphatase
94 → 276
Inorganic pyrophosphatase
 Domain
Sequence 
MSALLRLLRTGAPAAACLRLGTSAGTGSRRAMALYHTEERGQPCSQNYRLFFKNVTGHYI
SPFHDIPLKVNSKEENGIPMKKARNDEYENLFNMIVEIPRWTNAKMEIATKEPMNPIKQY
VKDGKLRYVANIFPYKGYIWNYGTLPQTWEDPHEKDKSTNCFGDNDPIDVCEIGSKILSC
GEVIHVKILGILALIDEGETDWKLIAINANDPEASKFHDIDDVKKFKPGYLEATLNWFRL
YKVPDGKPENQFAFNGEFKNKAFALEVIKSTHQCWKALLMKKCNGGAINCTNVQISDSPF
RCTQEEARSLVESVSSSPNKESNEEEQVWHFLGK
Sequence length 334
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Oxidative phosphorylation   Mitochondrial tRNA aminoacylation
Pyrophosphate hydrolysis
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 29059683
Myocarditis Myocarditis rs28763965
Sudden cardiac failure SUDDEN CARDIAC FAILURE, INFANTILE rs772083375, rs1057517678, rs146013446, rs1057517679, rs1057517680, rs138215926, rs546693824, rs1187924642 27523598, 27523597
Unknown
Disease name Disease term dbSNP ID References
Congestive heart failure Congestive heart failure rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569

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