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 transcripti... See more...

Aliases for PPA2 Gene

Aliases for PPA2 Gene

  • Inorganic Pyrophosphatase 2 2 3 5
  • Inorganic Pyrophosphatase 2, Mitochondrial 3 4
  • Pyrophosphate Phospho-Hydrolase 2 3 4
  • Pyrophosphatase (Inorganic) 2 2 3
  • Pyrophosphatase SID6-306 3 4
  • EC 3.6.1.1 4 50
  • PPase 2 3 4
  • SID6-306 3
  • FLJ20459 2
  • HSPC124 3
  • SCFAI 3
  • SCFI 3
  • PPA2 5

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 (Inorganic Pyrophosphatase 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 tRNA Aminoacylation and Metabolism. Gene Ontology (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 Summary 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).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPA2 Gene

Genomics for PPA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J105471 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 257.6 +1.1 1058 3.4 BCLAF1 ZNF654 ZNF207 IKZF1 MYC ZNF600 ZNF580 POLR2A ZNF223 NFIC PPA2 HSALNG0036176 lnc-INTS12-3 TET2-AS1 TET2
GH04J105144 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 7.8 +327.2 327169 5.4 BCLAF1 ZNF207 JUND POLR2A ZIC2 YY1 NONO SMAD5 SIN3A TRIM22 ENSG00000251259 TET2 EEF1A1P9 TET2-AS1 ENSG00000250740 PPA2
GH04J105149 Enhancer 1 FANTOM5 ENCODE dbSUPER 8.3 +324.0 323998 0.9 CEBPA YY1 CEBPB RXRA ZBTB33 JUND HNF4A RAD21 MAX SP1 TET2 TET2-AS1 PPA2 ENSG00000251259 HSALNG0036165
GH04J105550 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 5.4 -80.2 -80170 7.7 JUND CEBPB SCRT1 EGR1 SP1 POU5F1 NANOG CREB1 RFX1 ATF7 ARHGEF38 ENSG00000250522 LOC105377352 ENSG00000248778 PPA2 ARHGEF38-IT1 GSTCD
GH04J105342 Enhancer 0.8 Ensembl ENCODE CraniofacialAtlas 9.4 +130.5 130488 1.3 FEZF1 ZNF341 ZNF843 PRDM6 GATA2 PKNOX1 PPA2 ENSG00000248778 TET2-AS1 lnc-PPA2-6 TET2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPA2

Top Transcription factor binding sites by QIAGEN in the PPA2 gene promoter:
  • GCNF
  • GCNF-1
  • GCNF-2
  • GR
  • GR-alpha
  • GR-beta
  • HFH-1
  • Hlf
  • POU6F1 (c2)
  • Spz1

Genomic Locations for PPA2 Gene

Latest Assembly
chr4:105,369,077-105,474,070
(GRCh38/hg38)
Size:
104,994 bases
Orientation:
Minus strand

Previous Assembly
chr4:106,290,234-106,395,227
(GRCh37/hg19 by Entrez Gene)
Size:
104,994 bases
Orientation:
Minus strand

chr4:106,290,234-106,395,238
(GRCh37/hg19 by Ensembl)
Size:
105,005 bases
Orientation:
Minus strand

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=Truncated N-terminus.; 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; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAG59609.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=CAB66590.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB66590.2; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    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

Antibodies for research

  • Abcam antibodies for PPA2

Domains & Families for PPA2 Gene

Gene Families for PPA2 Gene

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

Protein Domains for PPA2 Gene

InterPro:
Blocks:
  • Inorganic pyrophosphatase

Suggested Antigen Peptide Sequences for PPA2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59863, highly similar to Inorganic pyrophosphatase 2, mitochondrial (EC 3.6.1.1) (B4DFH3_HUMAN)
  • Pyrophosphate phospho-hydrolase 2 (IPYR2_HUMAN)

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 Function:
Hydrolyzes inorganic pyrophosphate (PubMed:27523597). This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function (PubMed:27523598).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=diphosphate + H2O = H(+) + 2 phosphate; Xref=Rhea:RHEA:24576, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:43474; EC=3.6.1.1;.

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,IBA 21873635
GO:0004427 inorganic diphosphatase activity IEA,IDA 27523597
GO:0004722 protein serine/threonine phosphatase activity IEA --
GO:0005515 protein binding IPI --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PPA2: view
genes like me logo Genes that share phenotypes with PPA2: view

Human Phenotype Ontology for PPA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for PPA2

miRNA for PPA2 Gene

miRTarBase miRNAs that target PPA2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPA2

Clone products for research

No data available for 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
mitochondrion 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0005829 cytosol IBA 21873635
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,IBA 21873635
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

(4) Drugs for PPA2 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Risperidone Approved, Investigational Pharma SR-2A inhibitor 545
Magnesium Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
Phosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with PPA2: view

Transcripts for PPA2 Gene

mRNA/cDNA for PPA2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPA2

Clone products for research

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

No ASD Table

Relevant External Links for PPA2 Gene

GeneLoc Exon Structure for
PPA2

Expression for PPA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PPA2 Gene



Protein tissue co-expression partners for PPA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.8)
  • Muscle(4.5)
  • Liver(4.4)
  • Blood(4.4)
  • Lung(4.4)
  • Heart(2.5)
  • Kidney(2.4)
  • Skin(2.3)
  • Intestine(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with PPA2: view

Primer products for research

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 29 30
  • 99.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPA2 29 30
  • 91.15 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPA2 29 30
  • 89.13 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppa2 29 16 30
  • 82.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppa2 29
  • 80.53 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PPA2 30
  • 72 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPA2 30
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PPA2 29 30
  • 71.95 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPA2 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppa1 29
  • 67.55 (n)
Zebrafish
(Danio rerio)
Actinopterygii ppa1a 29
  • 60.5 (n)
ppa2 30
  • 55 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Nurf-38 30
  • 47 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea pyp-1 30
  • 35 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IPP1 30
  • 50 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10318 30
  • 53 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2643 29
Species where no ortholog for PPA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for PPA2: view image
Alliance of Genome Resources:
Additional Orthologs for PPA2

Paralogs for PPA2 Gene

Paralogs for PPA2 Gene

(1) SIMAP similar genes for PPA2 Gene using alignment to 11 proteins:

  • IPYR2_HUMAN
  • B4DFH3_HUMAN
  • D6R967_HUMAN
  • D6RAD3_HUMAN
  • D6RGI1_HUMAN
  • D6RGV9_HUMAN
  • E2QRM6_HUMAN
  • F8W7R6_HUMAN
  • H0Y8X2_HUMAN
  • H0Y9D8_HUMAN
  • H0YAK2_HUMAN

Pseudogenes.org Pseudogenes for PPA2 Gene

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

Variants for PPA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPA2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1031742 Pathogenic: Sudden cardiac failure, infantile 105,370,847(-) ACTTT/A
NM_176869.3(PPA2):c.962_965del (p.Glu321fs)
FRAMESHIFT
1034388 Pathogenic: Sudden cardiac failure, infantile 105,386,566(-) C/A
NM_176869.3(PPA2):c.939+1G>T
SPLICE_DONOR
873541 Likely Pathogenic: Sudden cardiac failure, infantile 105,438,036(-) T/A
NM_176869.3(PPA2):c.442A>T (p.Thr148Ser)
MISSENSE_VARIANT,INTRON
rs105751767 Sudden cardiac failure, infantile (SCFI) [MIM:617222]. Sudden cardiac failure, infantile (SCFI) [MIM:617222] p.Met94Valp.Gln294Pro
rs1057517678 Pathogenic: Sudden cardiac failure, infantile 105,386,625(-) T/G
NM_176869.3(PPA2):c.881A>C (p.Gln294Pro)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPA2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for PPA2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for PPA2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PPA2 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
sudden cardiac failure, alcohol-induced
  • scfai
sudden cardiac failure, infantile
  • scfi
variola minor
  • alastrim
cardiac arrest
  • cardiopulmonary arrest
autosomal recessive disease
  • autosomal recessive disorder
- 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for PPA2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PPA2: view

No data available for Genatlas for PPA2 Gene

Publications for PPA2 Gene

  1. Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. (PMID: 27523598) Guimier A … Amiel J (American journal of human genetics 2016) 3 4 72
  2. 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 72
  3. 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
  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 40
  5. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G … Riley BP (Human molecular genetics 2010) 3 40

Products for PPA2 Gene

Sources for PPA2 Gene