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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
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	Reference	Source
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	Reference	Source
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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10915	PPA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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