ENSG00000138777


Homo sapiens

Features
Gene ID: ENSG00000138777
  
Biological name :PPA2
  
Synonyms : PPA2 / pyrophosphatase (inorganic) 2 / Q9H2U2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: q24
Gene start: 105369077
Gene end: 105474081
  
Corresponding Affymetrix probe sets: 1554499_s_at (Human Genome U133 Plus 2.0 Array)   1556284_at (Human Genome U133 Plus 2.0 Array)   1556285_s_at (Human Genome U133 Plus 2.0 Array)   1559496_at (Human Genome U133 Plus 2.0 Array)   220741_s_at (Human Genome U133 Plus 2.0 Array)   228366_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422738
Ensembl peptide - ENSP00000427375
Ensembl peptide - ENSP00000426347
Ensembl peptide - ENSP00000424988
Ensembl peptide - ENSP00000423889
Ensembl peptide - ENSP00000423467
Ensembl peptide - ENSP00000423363
Ensembl peptide - ENSP00000273977
Ensembl peptide - ENSP00000313061
Ensembl peptide - ENSP00000340352
Ensembl peptide - ENSP00000343885
Ensembl peptide - ENSP00000389957
Ensembl peptide - ENSP00000421177
Ensembl peptide - ENSP00000422405
NCBI entrez gene - 27068     See in Manteia.
OMIM - 609988
RefSeq - NM_176866
RefSeq - NM_176867
RefSeq - NM_176869
RefSeq - NM_006903
RefSeq Peptide - NP_789842
RefSeq Peptide - NP_789843
RefSeq Peptide - NP_789845
RefSeq Peptide - NP_008834
swissprot - D6RGV9
swissprot - Q9H2U2
swissprot - D6RGI1
swissprot - D6RAD3
swissprot - D6R967
swissprot - A0A0C4DGB9
swissprot - F8W7R6
swissprot - H0Y8X2
swissprot - H0Y9D8
swissprot - H0YAK2
Ensembl - ENSG00000138777
  
Related genetic diseases (OMIM): 617222 - Sudden cardiac failure, infantile, 617222
  617223 - ?Sudden cardiac failure, alcohol-induced, 617223
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ppa2ENSDARG00000009685Danio rerio
 PPA2ENSGALG00000010582Gallus gallus
 Ppa2ENSMUSG00000028013Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PPA1 / Q15181 / pyrophosphatase (inorganic) 1ENSG0000018081752


Protein motifs (from Interpro)
Interpro ID Name
 IPR008162  Inorganic pyrophosphatase
 IPR036649  Inorganic pyrophosphatase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006418 tRNA aminoacylation for protein translation TAS
 biological_processGO:0006470 protein dephosphorylation IEA
 biological_processGO:0006796 phosphate-containing compound metabolic process IEA
 biological_processGO:0051881 regulation of mitochondrial membrane potential IMP
 biological_processGO:0071344 diphosphate metabolic process TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000287 magnesium ion binding IEA
 molecular_functionGO:0004427 inorganic diphosphatase activity IEA
 molecular_functionGO:0004722 protein serine/threonine phosphatase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Mitochondrial tRNA aminoacylation
Pyrophosphate hydrolysis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
Show

 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
Show

 HP:0001639 Hypertrophic cardiomyopathy 
Show

 HP:0001662 Bradycardia 
Show

 HP:0001685 Myocardial fibrosis 
Show

 HP:0001942 Metabolic acidosis 
Show

 HP:0012819 Myocarditis "Inflammation of the myocardium." [HPO:probinson, pmid:21304213, pmid:22185868, pmid:22361396]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000138777 PPA2 / Q9H2U2 / pyrophosphatase (inorganic) 2  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr