REEP2

Receptor expression-enhancing protein 2 is a protein that in humans is encoded by the REEP2 gene.[5][6]

REEP2
Identifiers
Aliases	REEP2, C5orf19, SGC32445, SPG72, Yip2d, receptor accessory protein 2
External IDs	OMIM: 609347 MGI: 2385070 HomoloGene: 41146 GeneCards: REEP2
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q31.2 Start 138,439,057 bp[1] End 138,446,969 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 B1 Start 34,840,589 bp[2] End 34,847,463 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • taste receptor binding Cellular component • integral component of membrane • cytoplasmic microtubule • integral component of plasma membrane • endoplasmic reticulum membrane • endoplasmic reticulum • membrane Biological process • endoplasmic reticulum tubular network organization • sensory perception of bitter taste • sensory perception of sweet taste • protein transport into membrane raft • regulation of intracellular transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	51308	225362
Ensembl	ENSG00000132563	ENSMUSG00000038555
UniProt	Q9BRK0	Q8VCD6
RefSeq (mRNA)	NM_001271803 NM_016606	NM_001204914 NM_144865
RefSeq (protein)	NP_001258732 NP_057690	NP_001191843 NP_659114
Location (UCSC)	Chr 5: 138.44 – 138.45 Mb	Chr 18: 34.84 – 34.85 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

The protein encoded by REEP2 belongs to a family of proteins with receptor enhancing expression capabilities, including possible enhancement of G protein-coupled receptors.[7] The REEP2 protein shows a restricted mode of expression in human tissues.[8]

Clinical significance

REEP2 mutations have been reported in families with hereditary spastic paraplegia.[9]

References

1. GRCh38: Ensembl release 89: ENSG00000132563 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038555 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Clark, Adrian J.L.; Metherell, Louise A.; Cheetham, Michael E.; Huebner, Angela (2005). "Inherited ACTH insensitivity illuminates the mechanisms of ACTH action". Trends in Endocrinology & Metabolism. 16 (10): 451–457. doi:10.1016/j.tem.2005.10.006. PMID 16271481.
6. Saito, Harumi; Kubota, Momoka; Roberts, Richard W.; Chi, Qiuyi; Matsunami, Hiroaki (2004). "RTP Family Members Induce Functional Expression of Mammalian Odorant Receptors". Cell. 119 (5): 679–691. doi:10.1016/j.cell.2004.11.021. PMID 15550249.
7. Björk, Susann; Hurt, Carl M.; Ho, Vincent K.; Angelotti, Timothy (2013-12-17). "Correction: REEPs Are Membrane Shaping Adapter Proteins That Modulate Specific G Protein-Coupled Receptor Trafficking by Affecting ER Cargo Capacity". PLOS ONE. 8 (12): 10.1371/annotation/6f86410c–63c3–4fcd-b1cb-9fd8d2ea95d0. doi:10.1371/annotation/6f86410c-63c3-4fcd-b1cb-9fd8d2ea95d0. ISSN 1932-6203. PMC 3867549.
8. Uhlén, Mathias; Fagerberg, Linn; Hallström, Björn M.; Lindskog, Cecilia; Oksvold, Per; Mardinoglu, Adil; Sivertsson, Åsa; Kampf, Caroline; Sjöstedt, Evelina (2015-01-23). "Tissue-based map of the human proteome". Science. 347 (6220): 1260419. doi:10.1126/science.1260419. ISSN 0036-8075. PMID 25613900.
9. Esteves, Typhaine; Durr, Alexandra; Mundwiller, Emeline; Loureiro, José L.; Boutry, Maxime; Gonzalez, Michael A.; Gauthier, Julie; El-Hachimi, Khalid H.; Depienne, Christel (2014). "Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia". The American Journal of Human Genetics. 94 (2): 268–277. doi:10.1016/j.ajhg.2013.12.005. PMC 3928657. PMID 24388663.

Further reading

• Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (April 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (April 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Lai F, Godley LA, Joslin J, Fernald AA, Liu J, Espinosa R, Zhao N, Pamintuan L, Till BG, Larson RA, Qian Z, Le Beau MM (January 2001). "Transcript map and comparative analysis of the 1.5-Mb commonly deleted segment of human 5q31 in malignant myeloid diseases with a del(5q)". Genomics. 71 (2): 235–45. doi:10.1006/geno.2000.6414. PMID 11161817.