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Aliases for PPA2 Gene

Aliases for PPA2 Gene

  • Pyrophosphatase (Inorganic) 2 2 3 5
  • Pyrophosphate Phospho-Hydrolase 2 3 4
  • Pyrophosphatase SID6-306 3 4
  • EC 3.6.1.1 4 58
  • PPase 2 3 4
  • Inorganic Pyrophosphatase 2, Mitochondrial 3
  • SID6-306 3
  • HSPC124 3
  • SCFAI 3
  • SCFI 3

External Ids for PPA2 Gene

Previous GeneCards Identifiers for PPA2 Gene

  • GC04M106683
  • GC04M106749
  • GC04M106647
  • GC04M106509
  • GC04M106290
  • GC04M102024

Summaries for PPA2 Gene

Entrez Gene Summary for PPA2 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 hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPA2 Gene

PPA2 (Pyrophosphatase (Inorganic) 2) is a Protein Coding gene. Diseases associated with PPA2 include Sudden Cardiac Failure, Alcohol-Induced and Sudden Cardiac Failure, Infantile. Among its related pathways are Metabolism and tRNA Aminoacylation. GO annotations related to this gene include magnesium ion binding and inorganic diphosphatase activity. An important paralog of this gene is PPA1.

UniProtKB/Swiss-Prot for PPA2 Gene

  • Hydrolyzes inorganic pyrophosphate (PubMed:27523597). This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function (PubMed:27523598).

Additional gene information for PPA2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPA2 Gene

Genomics for PPA2 Gene

Regulatory Elements for PPA2 Gene

Enhancers for PPA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H105149 1.3 FANTOM5 ENCODE dbSUPER 8.3 +324.0 324010 0.9 HLF CHD1 CEBPB MAX CEBPG ZNF644 RAD21 JUND CEBPA HNF4G TET2 TET2-AS1 PPA2 RN7SL89P
GH04H105144 1.3 ENCODE dbSUPER 7.8 +327.2 327152 5.2 HDGF PKNOX1 ATF1 FOXA2 ARNT SIN3A YBX1 YY1 GLIS2 ZNF143 EEF1A1P9 TET2-AS1 ENSG00000250740 TET2 PPA2 RN7SL89P
GH04H105460 1.5 FANTOM5 Ensembl ENCODE 6.4 +12.5 12544 1.3 HDAC1 ATF1 TBL1XR1 ARNT CHAMP1 TCF12 ZNF766 GATA2 ELK1 ATF7 TET2 PPA2 RNU6-553P
GH04H105471 1.1 ENCODE 7.7 +1.1 1069 3.4 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 TET2-AS1 PPA2 RNU6-553P
GH04H105194 1.2 Ensembl ENCODE dbSUPER 5.8 +279.2 279236 1.7 EBF1 BATF RELA FOS ATF7 ETV6 RUNX3 IKZF2 CREM SMARCA5 TET2 ENSG00000252136 LOC100288146 RNU6-351P ENSG00000248373 PPA2 RN7SL89P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PPA2 on UCSC Golden Path with GeneCards custom track

Promoters for PPA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000171464 681 2001 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 ZNF143

Genomic Locations for PPA2 Gene

Genomic Locations for PPA2 Gene
chr4:105,369,077-105,474,081
(GRCh38/hg38)
Size:
105,005 bases
Orientation:
Minus strand
chr4:106,290,234-106,395,238
(GRCh37/hg19)

Genomic View for PPA2 Gene

Genes around PPA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPA2 Gene

Proteins for PPA2 Gene

  • Protein details for PPA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2U2-IPYR2_HUMAN
    Recommended name:
    Inorganic pyrophosphatase 2, mitochondrial
    Protein Accession:
    Q9H2U2
    Secondary Accessions:
    • B4DLP7
    • F8WDN9
    • I6L9B6
    • Q4W5E9
    • Q6PG51
    • Q8TBW0
    • Q96E55
    • Q9H0T0
    • Q9NX37
    • Q9P033
    • Q9ULX0

    Protein attributes for PPA2 Gene

    Size:
    334 amino acids
    Molecular mass:
    37920 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAF29088.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF29088.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAA84701.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91184.1; Type=Erroneous termination; Positions=59; Note=Translated as Tyr.; Evidence={ECO:0000305}; Sequence=BAG59609.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=CAB66590.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB66590.2; Type=Frameshift; Positions=75; Evidence={ECO:0000305};

    Alternative splice isoforms for PPA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPA2 Gene

Selected DME Specific Peptides for PPA2 Gene

Q9H2U2:
  • DEGETDWK
  • KPGYLEAT
  • PQTWEDP
  • YKVPDGKP
  • GDNDPIDVCEIGSK
  • PRWTNAK
  • SPFHDIP
  • PDGKPENQFAF

Post-translational modifications for PPA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PPA2 Gene

Gene Families for PPA2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PPA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H2U2

UniProtKB/Swiss-Prot:

IPYR2_HUMAN :
  • Belongs to the PPase family.
Family:
  • Belongs to the PPase family.
genes like me logo Genes that share domains with PPA2: view

Function for PPA2 Gene

Molecular function for PPA2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Diphosphate + H(2)O = 2 phosphate.
UniProtKB/Swiss-Prot Function:
Hydrolyzes inorganic pyrophosphate (PubMed:27523597). This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function (PubMed:27523598).

Enzyme Numbers (IUBMB) for PPA2 Gene

Phenotypes From GWAS Catalog for PPA2 Gene

Gene Ontology (GO) - Molecular Function for PPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004427 inorganic diphosphatase activity IEA,TAS --
GO:0004722 protein serine/threonine phosphatase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PPA2: view

Phenotypes for PPA2 Gene

genes like me logo Genes that share phenotypes with PPA2: view

Animal Model Products

miRNA for PPA2 Gene

miRTarBase miRNAs that target PPA2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPA2 Gene

Localization for PPA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPA2 Gene

Mitochondrion.

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 PPA2 gene
Compartment Confidence
extracellular 5
mitochondrion 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PPA2: view

Pathways & Interactions for PPA2 Gene

genes like me logo Genes that share pathways with PPA2: view

Pathways by source for PPA2 Gene

Gene Ontology (GO) - Biological Process for PPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006470 protein dephosphorylation IEA --
GO:0006796 phosphate-containing compound metabolic process IEA --
GO:0051881 regulation of mitochondrial membrane potential IMP 27523598
GO:0071344 diphosphate metabolic process TAS --
genes like me logo Genes that share ontologies with PPA2: view

No data available for SIGNOR curated interactions for PPA2 Gene

Drugs & Compounds for PPA2 Gene

(3) Drugs for PPA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Magnesium Nutra 0

(2) Additional Compounds for PPA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with PPA2: view

Transcripts for PPA2 Gene

Unigene Clusters for PPA2 Gene

Pyrophosphatase (inorganic) 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPA2 Gene

No ASD Table

Relevant External Links for PPA2 Gene

GeneLoc Exon Structure for
PPA2
ECgene alternative splicing isoforms for
PPA2

Expression for PPA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPA2 Gene



Protein tissue co-expression partners for PPA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPA2 Gene:

PPA2

SOURCE GeneReport for Unigene cluster for PPA2 Gene:

Hs.654957

mRNA Expression by UniProt/SwissProt for PPA2 Gene:

Q9H2U2-IPYR2_HUMAN
Tissue specificity: Detected in brain, gastric carcinoma, lung, ovary, skeletal muscle, umbilical cord blood and a cell line derived from kidney proximal tubule epithelium.

Evidence on tissue expression from TISSUES for PPA2 Gene

  • Nervous system(4.7)
  • Liver(4.3)
  • Lung(4.3)
  • Muscle(4.3)
  • Blood(4.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with PPA2: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPA2 Gene

Orthologs for PPA2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PPA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPA2 33 34
  • 99.9 (n)
dog
(Canis familiaris)
Mammalia PPA2 33 34
  • 91.15 (n)
cow
(Bos Taurus)
Mammalia PPA2 33 34
  • 89.13 (n)
mouse
(Mus musculus)
Mammalia Ppa2 16 34 33
  • 82.26 (n)
rat
(Rattus norvegicus)
Mammalia Ppa2 33
  • 80.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPA2 34
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPA2 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPA2 33 34
  • 71.95 (n)
lizard
(Anolis carolinensis)
Reptilia PPA2 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppa1 33
  • 67.55 (n)
zebrafish
(Danio rerio)
Actinopterygii ppa1a 33
  • 60.5 (n)
ppa2 34
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nurf-38 34
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pyp-1 34
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IPP1 34
  • 50 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10318 34
  • 53 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2643 33
Species where no ortholog for PPA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 PPA2 Gene

ENSEMBL:
Gene Tree for PPA2 (if available)
TreeFam:
Gene Tree for PPA2 (if available)

Paralogs for PPA2 Gene

Paralogs for PPA2 Gene

Pseudogenes.org Pseudogenes for PPA2 Gene

genes like me logo Genes that share paralogs with PPA2: view

Variants for PPA2 Gene

Sequence variations from dbSNP and Humsavar for PPA2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs138215926 Pathogenic, Sudden cardiac failure, alcohol-induced (SCFAI) [MIM:617223] 105,399,137(+) AACCC(A/G)GTTTG reference, missense
rs139076647 Sudden cardiac failure, infantile (SCFI) [MIM:617222] 105,446,444(+) CATAG(A/C/T)GTAGC intron-variant, reference, missense
rs146013446 Sudden cardiac failure, alcohol-induced (SCFAI) [MIM:617223], Sudden cardiac failure, infantile (SCFI) [MIM:617222] 105,437,964(+) TATTT(C/T)GCAAA intron-variant, reference, missense
rs546693824 Pathogenic, Sudden cardiac failure, infantile (SCFI) [MIM:617222] 105,437,978(+) CAATA(A/G)GATCA intron-variant, reference, missense
VAR_077866 Sudden cardiac failure, infantile (SCFI) [MIM:617222]

Structural Variations from Database of Genomic Variants (DGV) for PPA2 Gene

Variant ID Type Subtype PubMed ID
nsv956373 CNV deletion 24416366
nsv830027 CNV gain 17160897
nsv595007 CNV loss 21841781
nsv474883 CNV novel sequence insertion 20440878
nsv470063 CNV loss 18288195
nsv461609 CNV loss 19166990
nsv1117113 CNV deletion 24896259
nsv1002228 CNV loss 25217958
nsv1000196 CNV loss 25217958
esv3601663 CNV loss 21293372
esv3564383 CNV deletion 23714750
esv2760858 CNV loss 21179565
esv2667301 CNV deletion 23128226

Variation tolerance for PPA2 Gene

Residual Variation Intolerance Score: 72.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.11; 92.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPA2 Gene

Human Gene Mutation Database (HGMD)
PPA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPA2 Gene

Disorders for PPA2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PPA2 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
sudden cardiac failure, alcohol-induced
  • scfai
sudden cardiac failure, infantile
  • scfi
cardiac arrest
  • cardiopulmonary arrest
- elite association - COSMIC cancer census association via MalaCards
Search PPA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IPYR2_HUMAN
  • Sudden cardiac failure, alcohol-induced (SCFAI) [MIM:617223]: An autosomal recessive disease characterized by sudden death due to unexpected cardiac arrest following ingestion of small amounts of alcohol. {ECO:0000269 PubMed:27523597}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sudden cardiac failure, infantile (SCFI) [MIM:617222]: A disease characterized by sudden death within the first 2 years of life due to unexpected cardiac arrest. Some patients manifest hypertrophic cardiomyopathy, lipid accumulation in myocardium, degeneration of mitochondrial cristae, metabolic acidosis, and elevated plasma lactate levels. SCFI transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:27523597, ECO:0000269 PubMed:27523598}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PPA2

Genetic Association Database (GAD)
PPA2
Human Genome Epidemiology (HuGE) Navigator
PPA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPA2
genes like me logo Genes that share disorders with PPA2: view

No data available for Genatlas for PPA2 Gene

Publications for PPA2 Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 60
  2. Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. (PMID: 27523598) Guimier A … Amiel J (American journal of human genetics 2016) 3 4 60
  3. Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. (PMID: 27523597) Kennedy H … Mayr JA (American journal of human genetics 2016) 3 4 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60

Products for PPA2 Gene

Sources for PPA2 Gene

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