ITM2B

Protein-coding gene in the species Homo sapiens
ITM2B
Identifiers
AliasesITM2B, ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, imBRI2, RDGCA, integral membrane protein 2B
External IDsOMIM: 603904; MGI: 1309517; HomoloGene: 7388; GeneCards: ITM2B; OMA:ITM2B - orthologs
Gene location (Human)
Chromosome 13 (human)
Chr.Chromosome 13 (human)[1]
Chromosome 13 (human)
Genomic location for ITM2B
Genomic location for ITM2B
Band13q14.2Start48,232,612 bp[1]
End48,270,357 bp[1]
Gene location (Mouse)
Chromosome 14 (mouse)
Chr.Chromosome 14 (mouse)[2]
Chromosome 14 (mouse)
Genomic location for ITM2B
Genomic location for ITM2B
Band14 D3|14 38.88 cMStart73,599,666 bp[2]
End73,622,729 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
  • molar

  • right lung

  • calvaria

  • right lung lobe

  • seminal vesicula

  • left lung

  • renal corpuscle

  • medullary collecting duct

  • left lung lobe

  • carotid body
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
SpeciesHumanMouse
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 MbChr 14: 73.6 – 73.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000136156 – Ensembl, May 2017
  2. ^ a b c 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. 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.


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