Entity Details

Primary name RTN2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75298
EntryNameRTN2_HUMAN
FullNameReticulon-2
TaxID9606
Evidenceevidence at protein level
Length545
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesRTN2

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005882 intermediate filament
GO:0009986 cell surface
GO:0010467 gene expression
GO:0014802 terminal cisterna
GO:0030018 Z disc
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0030315 T-tubule
GO:0033017 sarcoplasmic reticulum membrane
GO:0046324 regulation of glucose import
GO:0065002 intracellular protein transmembrane transport
GO:1902430 negative regulation of amyloid-beta formation

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm
Endoplasmic reticulum membrane
Sarcoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR003388 ReticulonDomainDomain

Diseases

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Disease IDSourceNameDescription
604805 OMIMSpastic paraplegia 12, autosomal dominant (SPG12)A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
RTN2_HUMANFANCG_HUMANBioGRID14499622 details