Entity Details

Primary name RUSC2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N2Y8
EntryNameRUSC2_HUMAN
FullNameIporin
TaxID9606
Evidenceevidence at protein level
Length1516
SequenceStatuscomplete
DateCreated2004-07-19
DateModified2021-06-02

Ontological Relatives

GenesRUSC2

GO terms

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GOName
GO:0005829 cytosol
GO:0031267 small GTPase binding
GO:0031410 cytoplasmic vesicle
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR001452 SH3 domainDomainDomain
IPR004012 RUN domainDomainDomain
IPR036028 SH3-like domain superfamilyFamilyHomologous superfamily
IPR037213 RUN domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617773 OMIMMental retardation, autosomal recessive 61 (MRT61)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT61 patients manifest delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. Refractory seizures and brain abnormalities are present in severely affected patients. The disease is caused by variants affecting the gene represented in this entry.