InnateDB Protein
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IDBP-47132.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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REEP2
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Protein Name
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receptor accessory protein 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000254901
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InnateDB Gene
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IDBG-47128 (REEP2)
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Protein Structure
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Function |
Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity). {ECO:0000250}.
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Subcellular Localization |
Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
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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.
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Tissue Specificity |
Detected in brain, heart and skeletal muscle, and at low levels in placenta, kidney and pancreas. {ECO:0000269PubMed:11161817}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004345
TB2/DP1/HVA22-related protein
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PFAM |
PF03134
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BRK0
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PhosphoSite |
PhosphoSite-Q9BRK0
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TrEMBL |
B4DE60
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UniProt Splice Variant |
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Entrez Gene |
51308
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UniGene |
Hs.416090
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RefSeq |
NP_057690
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HUGO |
HGNC:17975
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OMIM |
609347
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CCDS |
CCDS4205
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HPRD |
16655
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IMGT |
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EMBL |
AC113403
AF251041
AK223611
AK293480
AY562240
BC006218
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GenPept |
AAF63767
AAH06218
AAT70685
BAD97331
BAG56971
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