Entity Details

Primary name IPYR2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H2U2
EntryNameIPYR2_HUMAN
FullNameInorganic pyrophosphatase 2, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length334
SequenceStatuscomplete
DateCreated2004-09-27
DateModified2021-06-02

Ontological Relatives

GenesPPA2

GO terms

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GOName
GO:0000287 magnesium ion binding
GO:0004427 inorganic diphosphatase activity
GO:0004722 protein serine/threonine phosphatase activity
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0006418 tRNA aminoacylation for protein translation
GO:0006796 phosphate-containing compound metabolic process
GO:0051881 regulation of mitochondrial membrane potential
GO:0071344 diphosphate metabolic process

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR008162 Inorganic pyrophosphataseFamilyFamily
IPR036649 Inorganic pyrophosphatase superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617222 OMIMSudden cardiac failure, infantile (SCFI)A disease characterized by sudden death within the first 2 years of life due to unexpected cardiac arrest. Some patients manifest hypertrophic cardiomyopathy, lipid accumulation in myocardium, degeneration of mitochondrial cristae, metabolic acidosis, and elevated plasma lactate levels. SCFI transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.
617223 OMIMSudden cardiac failure, alcohol-induced (SCFAI)An autosomal recessive disease characterized by sudden death due to unexpected cardiac arrest following ingestion of small amounts of alcohol. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions