REEP2

REEP2
Identifiers
Aliases	REEP2, C5orf19, SGC32445, SPG72, Yip2d, receptor accessory protein 2
External IDs	MGI: 2385070 HomoloGene: 41146 GeneCards: REEP2
Gene location (Human)
Chr.	Chromosome 5 (human)[1]
End	138,446,969 bp[1]
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)[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
	51308
	225362
	ENSG00000132563
	ENSMUSG00000038555
	Q9BRK0
	Q8VCD6
	NM_001271803; NM_016606
	NM_001204914; NM_144865
	NP_001258732; NP_057690
	NP_001191843; NP_659114
	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 2 3 GRCh38: Ensembl release 89: ENSG00000132563 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038555 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ Clark, Adrian J.L.; Metherell, Louise A.; Cheetham, Michael E.; Huebner, Angela. "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.
↑ Saito, Harumi; Kubota, Momoka; Roberts, Richard W.; Chi, Qiuyi; Matsunami, Hiroaki. "RTP Family Members Induce Functional Expression of Mammalian Odorant Receptors". Cell. 119 (5): 679–691. doi:10.1016/j.cell.2004.11.021.
↑ 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.
↑ 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.
↑ Esteves, Typhaine; Durr, Alexandra; Mundwiller, Emeline; Loureiro, José L.; Boutry, Maxime; Gonzalez, Michael A.; Gauthier, Julie; El-Hachimi, Khalid H.; Depienne, Christel. "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.

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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000132563 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038555 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[5] Clark, Adrian J.L.; Metherell, Louise A.; Cheetham, Michael E.; Huebner, Angela. "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.

[6] Saito, Harumi; Kubota, Momoka; Roberts, Richard W.; Chi, Qiuyi; Matsunami, Hiroaki. "RTP Family Members Induce Functional Expression of Mammalian Odorant Receptors". Cell. 119 (5): 679–691. doi:10.1016/j.cell.2004.11.021.

[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.

[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. "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.

REEP2

Function

Clinical significance

References

Further reading