ITM2B

ITM2B
Identifiers
Aliases	ITM2B , ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, imBRI2, RDGCA, integral membrane protein 2B
External IDs	OMIM: 603904; MGI: 1309517; HomoloGene: 7388; GeneCards: ITM2B; OMA:ITM2B - orthologs
Gene location (Human) Chr. Chromosome 13 (human) [1] Band 13q14.2 Start 48,232,612 bp [1] End 48,270,357 bp [1]
Gene location (Mouse) Chr. Chromosome 14 (mouse) [2] Band 14 D3|14 38.88 cM Start 73,599,666 bp [2] End 73,622,729 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in glomerulus metanephric glomerulus corpus epididymis germinal epithelium kidney tubule visceral pleura jejunal mucosa renal medulla parietal pleura caput epididymis Top expressed in stroma of bone marrow vestibular sensory epithelium skin of external ear molar lobe of prostate transitional epithelium of urinary bladder right lung calvaria right lung lobe efferent ductule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function amyloid-beta binding protein binding ATP binding Cellular component integral component of organelle membrane extracellular region integral component of membrane Golgi-associated vesicle membrane Golgi membrane endosome plasma membrane Golgi apparatus endosome membrane extracellular exosome membrane intracellular membrane-bounded organelle extracellular space Biological process nervous system development negative regulation of amyloid precursor protein biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9445 16432 Ensembl ENSG00000136156 ENSMUSG00000022108 UniProt Q9Y287 O89051 RefSeq (mRNA) NM_021999 NM_008410 RefSeq (protein) NP_068839 NP_032436 Location (UCSC) Chr 13: 48.23 – 48.27 Mb Chr 14: 73.6 – 73.62 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000136156 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022108 – 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. Pittois K, Deleersnijder W, Merregaert J (Nov 1998). "cDNA sequence analysis, chromosomal assignment and expression pattern of the gene coding for integral membrane protein 2B". Gene. 217 (1–2): 141–9. doi:10.1016/S0378-1119(98)00354-0. PMID   9795190.
6. "Entrez Gene: ITM2B integral membrane protein 2B".

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. PMC   11139122 . 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. Bibcode:2000PNAS...97.4920V. 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. S2CID   27728145.
• 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. Bibcode:2002PNAS...9916899M. 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.