Entity Details

Primary name REEP2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BRK0
EntryNameREEP2_HUMAN
FullNameReceptor expression-enhancing protein 2
TaxID9606
Evidenceevidence at protein level
Length252
SequenceStatuscomplete
DateCreated2005-12-20
DateModified2021-06-02

Ontological Relatives

GenesREEP2

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005881 cytoplasmic microtubule
GO:0005887 integral component of plasma membrane
GO:0008017 microtubule binding
GO:0016020 membrane
GO:0031883 taste receptor binding
GO:0032386 regulation of intracellular transport
GO:0032596 protein transport into membrane raft
GO:0050913 sensory perception of bitter taste
GO:0050916 sensory perception of sweet taste
GO:0071782 endoplasmic reticulum tubular network
GO:0071786 endoplasmic reticulum tubular network organization

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR004345 TB2/DP1/HVA22-related proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
615625 OMIMSpastic paraplegia 72 (SPG72)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. SPG72 is a pure form of spastic paraplegia with onset of difficulty walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Some patients may have pes cavus or sphincter disturbances. Cognition, speech, and ocular function are normal. SPG72 inheritance is autosomal dominant or recessive. The disease is caused by variants affecting the gene represented in this entry.