PPA2 - inorganic pyrophosphatase 2 Gene

Also Known as SCFI; SCFAI; HSPC124; SID6-306

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 27068

About PPA2

Cytogenetic location: 4q24 Genomic coordinates (GRCh38): 4:105,369,077-105,474,070 (from NCBI)

This gene has 22 transcripts (splice variants), 220 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 25.8), colon (RPKM 25.1) and 25 other tissues.

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]

PPA2 Products (4)

mRNA Protein Name
NM_006903.4 NP_008834.3 inorganic pyrophosphatase 2, mitochondrial isoform 2 precursor
NM_176866.2 NP_789842.2 inorganic pyrophosphatase 2, mitochondrial isoform 3 precursor
NM_176867.3 NP_789843.2 inorganic pyrophosphatase 2, mitochondrial isoform 4 precursor
NM_176869.3 NP_789845.1 inorganic pyrophosphatase 2, mitochondrial isoform 1 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables inorganic diphosphate phosphatase activity IDA
IDA: Inferred from direct assay
27523597 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in diphosphate metabolic process IMP
IMP: Inferred from mutant phenotype
27523597 GOA
involved in regulation of mitochondrial membrane potential IMP
IMP: Inferred from mutant phenotype
27523598 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in mitochondrion IDA
IDA: Inferred from direct assay
27523597 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PPA2 Protein Structure

Pyrophosphatase

Pyrophosphatase: Inorganic pyrophosphatase (93 - 276)

  • 0
  • 100
  • 200
  • 300
  • 334 a.a.
Protein Preferred Names Protein Names

inorganic pyrophosphatase 2, mitochondrial

  • PPase 2

関連疾患

Diseases Alias
Sudden Cardiac Failure, Alcohol-Induced

  • SCFAI
Sudden Cardiac Failure, Infantile

  • SCFI
Cardiac Arrest

  • Cardiopulmonary Arrest

  • Circulatory Arrest

  • Heart Arrest
Variola Minor

  • Alastrim

  • Cottonpox

  • Milkpox

  • Whitepox
Erythrasma

  • Infection Due To Corynebacterium Minutissimum
Hypertrophic Cardiomyopathy

  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS10915 PPA2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19371 Ppa2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25863 Ppa2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Felis catus PPA2 VGNC VGNC:82522
Rattus norvegicus PPA2 RGD RGD:1307965
Mus musculus PPA2 MGD MGI:1922026
Canis familiaris PPA2 VGNC VGNC:81245
Macaca mulatta PPA2 VGNC VGNC:96721
Bos taurus PPA2 VGNC VGNC:56353
Others PPA2 NCBI