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PPA2 inorganic pyrophosphatase 2 [ Homo sapiens (human) ]

Gene ID: 27068, updated on 7-Jun-2020

Summary

Official Symbol
PPA2provided by HGNC
Official Full Name
inorganic pyrophosphatase 2provided by HGNC
Primary source
HGNC:HGNC:28883
See related
Ensembl:ENSG00000138777 MIM:609988
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SCFI; SCFAI; HSPC124; SID6-306
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 25.8), colon (RPKM 25.1) and 25 other tissues See more
Orthologs

Genomic context

See PPA2 in Genome Data Viewer
Location:
4q24
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (105369077..105474070, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (106290234..106395227, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene tet methylcytosine dioxygenase 2 Neighboring gene TET2 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 89, pseudogene Neighboring gene RNA, U6 small nuclear 553, pseudogene Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 9 Neighboring gene PIMREG pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Sudden cardiac failure, alcohol-induced
MedGen: C4310663 OMIM: 617223 GeneReviews: Not available
Compare labs
Sudden cardiac failure, infantile
MedGen: C4310664 OMIM: 617222 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
NHGRI GWA Catalog
Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20459, MGC49850

Gene Ontology Provided by GOA

Function Evidence Code Pubs
inorganic diphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inorganic diphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
magnesium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein serine/threonine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
diphosphate metabolic process TAS
Traceable Author Statement
more info
 
phosphate-containing compound metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of mitochondrial membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
tRNA aminoacylation for protein translation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
inorganic pyrophosphatase 2, mitochondrial
Names
PPase 2
pyrophosphatase (inorganic) 2
pyrophosphatase SID6-306
pyrophosphate phospho-hydrolase 2
NP_008834.3
NP_789842.2
NP_789843.2
NP_789845.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053007.1 RefSeqGene

    Range
    5009..109994
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006903.4NP_008834.3  inorganic pyrophosphatase 2, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_008834.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding segment, when compared to variant 1. The resulting isoform (2) is shorter and lacks an internal region, as compared to isoform 1.
    Source sequence(s)
    AI419577, AK000466, BC035569, BC057219, CN423093
    Consensus CDS
    CCDS3668.2
    UniProtKB/Swiss-Prot
    Q9H2U2
    Related
    ENSP00000313061.8, ENST00000348706.9
    Conserved Domains (1) summary
    cl00217
    Location:4257
    pyrophosphatase; Inorganic pyrophosphatase. These enzymes hydrolyze inorganic pyrophosphate (PPi) to two molecules of orthophosphates (Pi). The reaction requires bivalent cations. The enzymes in general exist as homooligomers.
  2. NM_176866.2NP_789842.2  inorganic pyrophosphatase 2, mitochondrial isoform 3 precursor

    See identical proteins and their annotated locations for NP_789842.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding segment, when compared to variant 1. The resulting isoform (3) is shorter and lacks an internal region, as compared to isoform 1.
    Source sequence(s)
    AI419577, AK000466, BC039462, BM848099, CN423093
    Consensus CDS
    CCDS3669.2
    UniProtKB/Swiss-Prot
    Q9H2U2
    Related
    ENSP00000389957.2, ENST00000432483.6
    Conserved Domains (1) summary
    cl00217
    Location:4184
    pyrophosphatase; Inorganic pyrophosphatase. These enzymes hydrolyze inorganic pyrophosphate (PPi) to two molecules of orthophosphates (Pi). The reaction requires bivalent cations. The enzymes in general exist as homooligomers.
  3. NM_176867.3NP_789843.2  inorganic pyrophosphatase 2, mitochondrial isoform 4 precursor

    See identical proteins and their annotated locations for NP_789843.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame coding segment, when compared to variant 1. The resulting isoform (4) is shorter and lacks an internal region, as compared to isoform 1.
    Source sequence(s)
    AI419577, AK000466, BC022803, BC039462, CN423093
    Consensus CDS
    CCDS34043.1
    UniProtKB/Swiss-Prot
    Q9H2U2
    Related
    ENSP00000340352.3, ENST00000354147.7
    Conserved Domains (1) summary
    cl00217
    Location:53120
    pyrophosphatase; Inorganic pyrophosphatase. These enzymes hydrolyze inorganic pyrophosphate (PPi) to two molecules of orthophosphates (Pi). The reaction requires bivalent cations. The enzymes in general exist as homooligomers.
  4. NM_176869.3NP_789845.1  inorganic pyrophosphatase 2, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_789845.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (1).
    Source sequence(s)
    AF217187, AI419577, AK000466, BC035569
    Consensus CDS
    CCDS3667.1
    UniProtKB/Swiss-Prot
    Q9H2U2
    Related
    ENSP00000343885.5, ENST00000341695.10
    Conserved Domains (1) summary
    cl00217
    Location:4286
    pyrophosphatase; Inorganic pyrophosphatase. These enzymes hydrolyze inorganic pyrophosphate (PPi) to two molecules of orthophosphates (Pi). The reaction requires bivalent cations. The enzymes in general exist as homooligomers.

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    105369077..105474070 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001034191.1: Suppressed sequence

    Description
    NM_001034191.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_001034192.1: Suppressed sequence

    Description
    NM_001034192.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
  3. NM_001034193.1: Suppressed sequence

    Description
    NM_001034193.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
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