REEP2

REEP2
Identifiers
Aliases	REEP2 , C5orf19, SGC32445, SPG72, Yip2d, receptor accessory protein 2
External IDs	OMIM: 609347; MGI: 2385070; HomoloGene: 41146; GeneCards: REEP2; OMA:REEP2 - orthologs
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 34,973,642 bp [2] End 34,980,516 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum right frontal lobe cingulate gyrus anterior cingulate cortex Brodmann area 9 nucleus accumbens prefrontal cortex amygdala anterior pituitary putamen Top expressed in zygote superior frontal gyrus dentate gyrus of hippocampal formation granule cell cerebellar cortex primary visual cortex neural layer of retina secondary oocyte supraoptic nucleus spermatid greater petrosal nerve More reference expression data BioGPS 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: 34.97 – 34.98 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. S2CID   27450434.
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. S2CID   13555927.
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. S2CID   802377.
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.