Entity Details

Primary name RRF2M_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ969S9
EntryNameRRF2M_HUMAN
FullNameRibosome-releasing factor 2, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length779
SequenceStatuscomplete
DateCreated2003-02-01
DateModified2021-06-02

Ontological Relatives

GenesGFM2

GO terms

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GOName
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006414 translational elongation
GO:0032543 mitochondrial translation
GO:0032790 ribosome disassembly
GO:0070126 mitochondrial translational termination

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR000640 Elongation factor EFG, domain V-likeDomainDomain
IPR000795 Translational (tr)-type GTP-binding domainDomainDomain
IPR004161 Translation elongation factor EFTu-like, domain 2DomainDomain
IPR005225 Small GTP-binding protein domainDomainDomain
IPR005517 Translation elongation factor EFG/EF2, domain IVDomainDomain
IPR009000 Translation protein, beta-barrel domain superfamilyFamilyHomologous superfamily
IPR009022 Elongation factor G, domain IIIDomainDomain
IPR014721 Ribosomal protein S5 domain 2-type fold, subgroupFamilyHomologous superfamily
IPR020568 Ribosomal protein S5 domain 2-type foldFamilyHomologous superfamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR030851 Ribosome-releasing factor 2, mitochondrialFamilyFamily
IPR031157 Tr-type G domain, conserved siteSiteConserved site
IPR035647 EF-G domain III/V-likeFamilyHomologous superfamily
IPR035649 EFG, domain VDomainDomain
IPR041095 Elongation Factor G, domain IIDomainDomain

Diseases

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Disease IDSourceNameDescription
618397 OMIMCombined oxidative phosphorylation deficiency 39 (COXPD39)An autosomal recessive disorder due to mitochondrial dysfunction and characterized by global developmental delay, axial hypotonia, dystonia, dysarthria, impaired intellectual development with poor speech, and deficiencies of the mitochondrial respiratory chain enzyme complexes. Neuroimaging shows abnormalities in the putamen and caudate nuclei, along with subcortical white matter involvement. The disease is caused by variants affecting the gene represented in this entry.