InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: REEP2

Summary

InnateDB Protein

IDBP-47130.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

REEP2

Protein Name

receptor accessory protein 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000367590

InnateDB Gene

IDBG-47128 (REEP2)

Protein Structure

UniProt Annotation

Function

Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity). {ECO:0000250}.

Subcellular Localization

Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.

Disease Associations

Spastic paraplegia 72 (SPG72) [MIM:615625]: 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. {ECO:0000269PubMed:24388663}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in brain, heart and skeletal muscle, and at low levels in placenta, kidney and pancreas. {ECO:0000269PubMed:11161817}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0031883	taste receptor binding

Biological Process

GO:0008219	cell death
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:0071786	endoplasmic reticulum tubular network organization

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005881	cytoplasmic microtubule
GO:0005887	integral component of plasma membrane
GO:0070062	extracellular vesicular exosome