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Integral Membrane Protein 2B (ITM2B)

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ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; Immature BRI2; Transmembrane protein BRI

Integral Membrane Protein 2B (ITM2B)
CCC L634
HGNC 6174
MGI 1309517
PubMed 17965014
RGD 620727
UniProt Q9Y287
Wiki ITM2B
ITM2B or BRI2 is a gene located on chromosom 13. The gene is connected to Familial Danish Disease (FDD) and Familial British Disease (FBD) causing amyloid and pre-filbrillar effects similar to those seen in Alzheimers Disease (AD).
The BRI cDNA encodes a predicted protein of 266 amino acids. The first ATG is located 150 basepairs downstream of an in-frame TAG stop codon and has a classic Kozak consensus sequence. Hydropathy analysis indicated the presence of a putative single transmembrane-spanning domain between amino acids 52 and 74, indicating that this highly insoluble molecule is a type II integral transmembrane protein with the C-terminal part being extracellular. A potential N-glycosylation site was identified at asparagine-170.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Integral Membrane Protein 2B (ITM2B) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Integral Membrane Protein 2B (ITM2B) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Integral Membrane Protein 2B (ITM2B) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Integral Membrane Protein 2B (ITM2B) CLIA Kit Customized Service Offer
n/a ELISA Kit for Integral Membrane Protein 2B (ITM2B) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Integral Membrane Protein 2B (ITM2B) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Integral Membrane Protein 2B (ITM2B) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Integral Membrane Protein 2B (ITM2B) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Integral Membrane Protein 2B (ITM2B) CLIA Kit Customized Service Offer
n/a ELISA Kit for Integral Membrane Protein 2B (ITM2B) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Integral Membrane Protein 2B (ITM2B) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Integral Membrane Protein 2B (ITM2B) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Integral Membrane Protein 2B (ITM2B) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Integral Membrane Protein 2B (ITM2B) CLIA Kit Customized Service Offer
n/a ELISA Kit for Integral Membrane Protein 2B (ITM2B) ELISA Kit Customized Service Offer
  1. "A stop-codon mutation in the BRI gene associated with familial British dementia."Nature 399:776-781(1999) [PubMed] [Europe PMC] [Abstract]
  2. "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. 97:4920-4925(2000) [PubMed] [Europe PMC] [Abstract]
  3. "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning." Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family." Hum. Mol. Genet. 23:491-501(2014) [PubMed] [Europe PMC] [Abstract]
  6. "Furin mediates enhanced production of fibrillogenic ABri peptides in familial British dementia."Nat. Neurosci. 2:984-988(1999) [PubMed] [Europe PMC] [Abstract]
  7. "Axonal transport of British and Danish amyloid peptides via secretory vesicles."FASEB J. 18:373-375(2004) [PubMed] [Europe PMC] [Abstract]
  8. "The familial dementia BRI2 gene binds the Alzheimer gene amyloid-beta precursor protein and inhibits amyloid-beta production."J. Biol. Chem. 280:28912-28916(2005) [PubMed] [Europe PMC] [Abstract]
  9. "BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production."J. Biol. Chem. 280:30768-30772(2005) [PubMed] [Europe PMC] [Abstract]
  10. "Familial Danish dementia: co-existence of Danish and Alzheimer amyloid subunits (ADan AND A{beta}) in the absence of compact plaques."J. Biol. Chem. 280:36883-36894(2005) [PubMed] [Europe PMC] [Abstract]
  11. "Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b."J. Biol. Chem. 283:1644-1652(2008) [PubMed] [Europe PMC] [Abstract]
  12. "BRI2 (ITM2b) inhibits Abeta deposition in vivo."J. Neurosci. 28:6030-6036(2008) [PubMed] [Europe PMC] [Abstract]
  13. "BRI2 inhibits amyloid beta-peptide precursor protein processing by interfering with the docking of secretases to the substrate."J. Neurosci. 28:8668-8676(2008) [PubMed] [Europe PMC] [Abstract]
  14. "Substrate requirements for SPPL2b-dependent regulated intramembrane proteolysis."J. Biol. Chem. 284:5662-5670(2009) [PubMed] [Europe PMC] [Abstract]
  15. "The extracellular domain of Bri2 (ITM2B) binds the ABri peptide (1-23) and amyloid beta-peptide (Abeta1-40): Implications for Bri2 effects on processing of amyloid precursor protein and Abeta aggregation."Biochem. Biophys. Res. Commun. 393:356-361(2010) [PubMed] [Europe PMC] [Abstract]
  16. "BRI2 homodimerizes with the involvement of intermolecular disulfide bonds."Neurobiol. Aging 31:88-98(2010) [PubMed] [Europe PMC] [Abstract]
  17. "Glycosylation of BRI2 on asparagine 170 is involved in its trafficking to the cell surface but not in its processing by furin or ADAM10."Glycobiology 21:1382-1388(2011) [PubMed] [Europe PMC] [Abstract]
  18. "Maturation of BRI2 generates a specific inhibitor that reduces APP processing at the plasma membrane and in endocytic vesicles."Neurobiol. Aging 32:1400-1408(2011) [PubMed] [Europe PMC] [Abstract]
  19. "beta- but not gamma-secretase proteolysis of APP causes synaptic and memory deficits in a mouse model of dementia."EMBO Mol. Med. 4:171-179(2012) [PubMed] [Europe PMC] [Abstract]
  20. "The alpha-helical content of the transmembrane domain of the British dementia protein-2 (Bri2) determines its processing by signal peptide peptidase-like 2b (SPPL2b)."J. Biol. Chem. 287:5156-5163(2012) [PubMed] [Europe PMC] [Abstract]