1. Gene
  2. PPA2 - inorganic pyrophosphatase 2 Gene

PPA2 - inorganic pyrophosphatase 2 Gene

Homo sapiens

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

Gene ID: 27068 | Gene type: protein coding

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

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

Related Diseases

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

Orthologs Information

Species Symbol Source 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