Details for: PPA2

Gene ID: 27068

Symbol: PPA2

Ensembl ID: ENSG00000138777

Description: inorganic pyrophosphatase 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 370.4389
    Cell Significance Index: -57.6200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 219.5405
    Cell Significance Index: -55.6900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 156.9981
    Cell Significance Index: -64.6800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 150.5753
    Cell Significance Index: -71.0900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 141.6837
    Cell Significance Index: -57.5600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 126.2867
    Cell Significance Index: -64.9600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 106.2409
    Cell Significance Index: -71.2900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 60.5084
    Cell Significance Index: -57.7700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 54.5843
    Cell Significance Index: -67.3000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 21.9664
    Cell Significance Index: -58.8500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 17.6455
    Cell Significance Index: -69.6300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 17.5454
    Cell Significance Index: -53.8900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 13.5978
    Cell Significance Index: -29.7600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 5.7517
    Cell Significance Index: 1654.9200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 3.4340
    Cell Significance Index: 558.5000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 3.2276
    Cell Significance Index: 376.1400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.2479
    Cell Significance Index: 30.6700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.0807
    Cell Significance Index: 417.3800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.4544
    Cell Significance Index: 111.6100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.4211
    Cell Significance Index: 509.7400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.3658
    Cell Significance Index: 271.0400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.3141
    Cell Significance Index: 61.2700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.3066
    Cell Significance Index: 36.5200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.8915
    Cell Significance Index: 616.5600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8764
    Cell Significance Index: 478.6300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.7653
    Cell Significance Index: 57.0400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.7181
    Cell Significance Index: 40.3000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.6908
    Cell Significance Index: 30.5600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6815
    Cell Significance Index: 122.8600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.6569
    Cell Significance Index: 84.8700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6200
    Cell Significance Index: 32.2100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6065
    Cell Significance Index: 65.9700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.5968
    Cell Significance Index: 15.3400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.5828
    Cell Significance Index: 22.0700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5360
    Cell Significance Index: 65.9100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4625
    Cell Significance Index: 63.5200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.4138
    Cell Significance Index: 187.8000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4057
    Cell Significance Index: 8.7900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3766
    Cell Significance Index: 166.4900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2849
    Cell Significance Index: 536.5300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2680
    Cell Significance Index: 12.6000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2425
    Cell Significance Index: 41.4100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1750
    Cell Significance Index: 11.7700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1715
    Cell Significance Index: 108.9000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1482
    Cell Significance Index: 273.3700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1456
    Cell Significance Index: 224.1000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0986
    Cell Significance Index: 4.4700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0915
    Cell Significance Index: 17.4100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0835
    Cell Significance Index: 8.2600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0783
    Cell Significance Index: 4.1100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0528
    Cell Significance Index: 6.7700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0272
    Cell Significance Index: 36.9800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0166
    Cell Significance Index: 1.9600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0153
    Cell Significance Index: 11.5800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0086
    Cell Significance Index: 0.2300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0067
    Cell Significance Index: -0.2400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0202
    Cell Significance Index: -14.8100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0220
    Cell Significance Index: -16.3000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0659
    Cell Significance Index: -41.1300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0913
    Cell Significance Index: -51.4700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0981
    Cell Significance Index: -6.1800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1063
    Cell Significance Index: -10.8600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1217
    Cell Significance Index: -7.4800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1482
    Cell Significance Index: -10.4800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1951
    Cell Significance Index: -6.7800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2138
    Cell Significance Index: -31.0800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2165
    Cell Significance Index: -45.5900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.2680
    Cell Significance Index: -16.0900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2792
    Cell Significance Index: -31.9900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3415
    Cell Significance Index: -35.5600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3891
    Cell Significance Index: -10.5900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.4131
    Cell Significance Index: -11.0700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.4293
    Cell Significance Index: -5.3300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4389
    Cell Significance Index: -6.4800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4552
    Cell Significance Index: -29.3700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.5003
    Cell Significance Index: -4.0800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.5331
    Cell Significance Index: -60.8500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.5419
    Cell Significance Index: -14.2500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.5431
    Cell Significance Index: -9.0900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5686
    Cell Significance Index: -18.2100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6095
    Cell Significance Index: -48.2700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.6423
    Cell Significance Index: -18.3300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.6748
    Cell Significance Index: -13.1700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.7582
    Cell Significance Index: -19.3700
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.7633
    Cell Significance Index: -10.3000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.8025
    Cell Significance Index: -41.8000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.8814
    Cell Significance Index: -19.3000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.9468
    Cell Significance Index: -47.8500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.9692
    Cell Significance Index: -8.9300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -1.0025
    Cell Significance Index: -17.1800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -1.0552
    Cell Significance Index: -30.9900
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -1.0657
    Cell Significance Index: -11.6100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -1.1317
    Cell Significance Index: -27.1400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.1326
    Cell Significance Index: -69.4400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -1.1461
    Cell Significance Index: -23.9900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -1.1855
    Cell Significance Index: -27.3900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -1.2208
    Cell Significance Index: -26.1000
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -1.3488
    Cell Significance Index: -19.2000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.3567
    Cell Significance Index: -43.2100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -1.3574
    Cell Significance Index: -20.3400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** PPA2 is a metallophosphohydrolase enzyme that catalyzes the hydrolysis of inorganic pyrophosphate (PPi) to inorganic phosphate (Pi) and a diphosphate group. This reaction is essential for maintaining energy homeostasis within cells. PPA2 exhibits high specificity for PPi, with a Km value of 2.5 mM, indicating its efficient catalytic activity. The enzyme is also sensitive to metal ions, such as magnesium (Mg2+), which play a critical role in its catalytic activity. **Pathways and Functions:** PPA2 is involved in several key cellular pathways, including: 1. **Diphosphate Metabolic Process:** PPA2 is responsible for the hydrolysis of PPi to Pi, which is essential for maintaining energy homeostasis within cells. 2. **Inorganic Diphosphate Phosphatase Activity:** PPA2 catalyzes the hydrolysis of PPi to Pi, which is critical for various cellular processes, including protein serine/threonine phosphatase activity. 3. **Mitochondrial Matrix:** PPA2 is localized to the mitochondrial matrix, where it regulates the levels of PPi and Pi, which are essential for mitochondrial function and energy production. 4. **Mitochondrial Trna Aminoacylation:** PPA2 plays a role in the regulation of mitochondrial trna aminoacylation, which is critical for protein synthesis and mitochondrial function. 5. **Regulation of Mitochondrial Membrane Potential:** PPA2 helps regulate the mitochondrial membrane potential, which is essential for maintaining energy homeostasis within cells. **Clinical Significance:** Dysregulation of PPA2 has been implicated in several diseases, including: 1. **Mitochondrial Disorders:** Mutations in PPA2 have been associated with mitochondrial disorders, such as Leigh syndrome and MERRF syndrome. 2. **Neurological Disorders:** PPA2 has been implicated in various neurological disorders, including epilepsy, schizophrenia, and Alzheimer's disease. 3. **Cancer:** PPA2 has been shown to play a role in cancer development and progression, particularly in the regulation of mitochondrial function and energy metabolism. In conclusion, PPA2 is a multifaceted enzyme that plays a critical role in maintaining energy homeostasis within cells. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in maintaining cellular homeostasis. Further research is necessary to fully elucidate the functions of PPA2 and its role in human disease.

Genular Protein ID: 3260442353

Symbol: IPYR2_HUMAN

Name: Pyrophosphatase SID6-306

UniProtKB Accession Codes:

Q9H2U2 B4DLP7 F8WDN9 I6L9B6 Q4W5E9 Q6PG51 Q8TBW0 Q96E55 Q9H0T0 Q9NX37 Q9P033 Q9ULX0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 1 CTD 1 ChEBI 9 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 11 Ensembl 4 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 Pumba 1 RNAct 1 Reactome 2 RefSeq 4 Rhea 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 15210126

Title: Hypothetical proteins with putative enzyme activity in human amnion, lymphocyte, bronchial epithelial and kidney cell lines.

PubMed ID: 15210126

DOI: 10.1016/j.bbapap.2004.03.014

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27523598

Title: Biallelic PPA2 mutations cause sudden unexpected cardiac arrest in infancy.

PubMed ID: 27523598

DOI: 10.1016/j.ajhg.2016.06.021

PubMed ID: 27523597

Title: Sudden cardiac death due to deficiency of the mitochondrial inorganic pyrophosphatase PPA2.

PubMed ID: 27523597

DOI: 10.1016/j.ajhg.2016.06.027

Sequence Information:

  • Length: 334
  • Mass: 37920
  • Checksum: F8C85F64CDA447F1
  • Sequence:
    • MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI 
SPFHDIPLKV NSKEENGIPM KKARNDEYEN LFNMIVEIPR WTNAKMEIAT KEPMNPIKQY 
VKDGKLRYVA NIFPYKGYIW NYGTLPQTWE DPHEKDKSTN CFGDNDPIDV CEIGSKILSC 
GEVIHVKILG ILALIDEGET DWKLIAINAN DPEASKFHDI DDVKKFKPGY LEATLNWFRL 
YKVPDGKPEN QFAFNGEFKN KAFALEVIKS THQCWKALLM KKCNGGAINC TNVQISDSPF 
RCTQEEARSL VESVSSSPNK ESNEEEQVWH FLGK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.