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ITM2B Identifiers Aliases ITM2B External IDs OMIM : 603904 MGI : 1309517 HomoloGene : 7388 GeneCards : ITM2B Orthologs Species Human Mouse Entrez Ensembl UniProt RefSeq (mRNA) RefSeq (protein) Location (UCSC) Chr 13: 48.23 – 48.27 Mb Chr 14: 73.6 – 73.62 Mb PubMed search[3] [4] Wikidata
Integral membrane protein 2B (ITM2B or BRI2 ) is a protein that in humans is encoded by the ITM2B gene .[5] [6]
ITM2B or BRI2 is a gene located on chromosome 13. The gene is connected to familial Danish dementia and familial British dementia causing amyloid and pre-filbrillar effects similar to those seen in Alzheimer's .
References [ ] Further reading [ ]
Rostagno A, Tomidokoro Y, Lashley T, et al. (2005). "Chromosome 13 dementias". Cell. Mol. Life Sci . 62 (16): 1814–25. doi :10.1007/s00018-005-5092-5 . PMID 15968464 . S2CID 40812895 . Ernst B, Dalby MA, Dalby A (1970). "Luria testing in demented patients". Acta Neurol. Scand . 46 (S43): Suppl 43:97–8. doi :10.1111/j.1600-0447.1970.tb01106.x . PMID 5466275 . S2CID 221441989 . Vidal R, Frangione B, Rostagno A, et al. (1999). "A stop-codon mutation in the BRI gene associated with familial British dementia". Nature . 399 (6738): 776–81. Bibcode :1999Natur.399..776V . doi :10.1038/21637 . PMID 10391242 . S2CID 34349437 . Vidal R, Revesz T, Rostagno A, et al. (2000). "A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred" . Proc. Natl. Acad. Sci. U.S.A . 97 (9): 4920–5. doi :10.1073/pnas.080076097 PMC 18333 PMID 10781099 . Hu RM, Han ZG, Song HD, et al. (2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning" . Proc. Natl. Acad. Sci. U.S.A . 97 (17): 9543–8. Bibcode :2000PNAS...97.9543H . doi :10.1073/pnas.160270997 PMC 16901 PMID 10931946 . Fleischer A, Ayllón V, Dumoutier L, et al. (2002). "Proapoptotic activity of ITM2B(s), a BH3-only protein induced upon IL-2-deprivation which interacts with Bcl-2" . Oncogene . 21 (20): 3181–9. doi :10.1038/sj.onc.1205464 PMID 12082633 . Austen B, el-Agnaf O, Nagala S, et al. (2003). "Properties of neurotoxic peptides related to the BRI gene". Biochem. Soc. Trans . 30 (4): 557–9. doi :10.1042/BST0300557 . PMID 12196136 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Akiyama H, Kondo H, Arai T, et al. (2004). "Expression of BRI, the normal precursor of the amyloid protein of familial British dementia, in human brain". Acta Neuropathol . 107 (1): 53–8. doi :10.1007/s00401-003-0783-1 . PMID 14586629 . S2CID 20479606 . Choi SI, Vidal R, Frangione B, Levy E (2004). "Axonal transport of British and Danish amyloid peptides via secretory vesicles". FASEB J . 18 (2): 373–5. doi :10.1096/fj.03-0730fje . PMID 14656991 . S2CID 11582717 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Matsuda S, Giliberto L, Matsuda Y, et al. (2005). "The familial dementia BRI2 gene binds the Alzheimer gene amyloid-beta precursor protein and inhibits amyloid-beta production" . J. Biol. Chem . 280 (32): 28912–6. doi :10.1074/jbc.C500217200 PMID 15983050 . Fotinopoulou A, Tsachaki M, Vlavaki M, et al. (2005). "BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production" . J. Biol. Chem . 280 (35): 30768–72. doi :10.1074/jbc.C500231200 PMID 16027166 . Ghiso J, Rostagno A, Tomidokoro Y, et al. (2006). "Genetic alterations of the BRI2 gene: familial British and Danish dementias" . Brain Pathol . 16 (1): 71–9. doi :10.1111/j.1750-3639.2006.tb00563.x . PMC 8095812 PMID 16612984 .
Categories :
Genes on human chromosome 13 Human chromosome 13 gene stubs
