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Homo sapiens integral membrane protein 2B (ITM2B), mRNA.

Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu27275 Homo sapiens integral membrane protein 2B (ITM2B), mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu27275C Homo sapiens integral membrane protein 2B (ITM2B), mRNA. Customized vector In-stock $149.00 5-7

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_021999.4, 221316670
Length 801 bp
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens integral membrane protein 2B (ITM2B), mRNA.
Product integral membrane protein 2B

Summary: Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009].

RefSeq NP_068839.1
CDS 224..1024
Misc Feature(1)71..73
Misc Feature(2)386..448
Misc Feature(3)386..448
Misc Feature(4)527..625
Misc Feature(5)632..916
Misc Feature(6)950..955
Exon (1)1..340
Gene Synonym:ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2
Exon (2)341..469
Gene Synonym:ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2
Exon (3)470..676
Gene Synonym:ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2
Exon (4)677..787
Gene Synonym:ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2
Exon (5)788..938
Gene Synonym:ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2
Exon (6)939..1896
Gene Synonym:ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2
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Position Chain Variation Link
66+a, cdbSNP:375837803
88..89+a, gdbSNP:11556902
161+c, gdbSNP:11556903
212+a, cdbSNP:11556904
219+a, gdbSNP:11556906
266+a, gdbSNP:11556905
304+c, tdbSNP:11556899
315+a, cdbSNP:150336652
346+a, gdbSNP:11556907
392+a, cdbSNP:149490262
424+c, tdbSNP:17849339
427+c, tdbSNP:374098900
470+c, tdbSNP:201982776
476+a, gdbSNP:143931252
478+c, tdbSNP:74074155
507+a, cdbSNP:113956182
547+a, gdbSNP:9332284
559+c, tdbSNP:377585277
594+a, gdbSNP:370484810
626+c, tdbSNP:200085682
715+c, tdbSNP:11556900
723+c, tdbSNP:141232990
743+a, gdbSNP:146286944
755+a, gdbSNP:180832133
806+a, cdbSNP:11556901
808+c, gdbSNP:373587210
811+c, tdbSNP:201852577
846+a, gdbSNP:201399334
885+a, gdbSNP:199884227
921+a, gdbSNP:368050477
933+c, tdbSNP:371745063
974+a, gdbSNP:139394220
979+g, tdbSNP:201018568
997+c, tdbSNP:144217555
1000+c, tdbSNP:146553069
1001+a, gdbSNP:373968526
1022+a, tdbSNP:104894417
1057+a, gdbSNP:368947914
1059+a, gdbSNP:376535006
1063+c, tdbSNP:15059
1133+a, cdbSNP:111489798
1167+a, tdbSNP:9332304
complement(1188)-t, cdbSNP:11556898
1192+a, tdbSNP:1053852
1249+a, gdbSNP:9332305
1259+c, tdbSNP:149011622
1302+a, cdbSNP:111774271
1309+c, tdbSNP:9332306
1442+c, tdbSNP:143797646
1499+a, tdbSNP:148194760
1533+a, cdbSNP:3194840
1617+a, gdbSNP:187075131
1679+c, tdbSNP:141149671
1726+a, cdbSNP:9534999
Gene SymbolITM2B
Gene SynonymABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2
Locus Map13q14.3
Title The BRICHOS domain, amyloid fibril formation, and their relationship .
Author Knight SD, Presto J, Linse S and Johansson J.
Journal Biochemistry 52 (43), 7523-7531 (2013)
Title BRI2 interacts with BACE1 and regulates its cellular levels by promoting its degradation and reducing its mRNA levels .
Author Tsachaki M, Fotinopoulou A, Slavi N, Zarkou V, Ghiso J and Efthimiopoulos S.
Journal Curr Alzheimer Res 10 (5), 532-541 (2013)
Title Abundant pyroglutamate-modified ABri and ADan peptides in extracellular and vascular amyloid deposits in familial British and Danish dementias .
Author Saul A, Lashley T, Revesz T, Holton J, Ghiso JA, Coomaraswamy J and Wirths O.
Journal Neurobiol. Aging 34 (5), 1416-1425 (2013)
Title Increased tau phosphorylation and tau truncation, and decreased synaptophysin levels in mutant BRI2/tau transgenic mice .
Author Garringer HJ, Murrell J, Sammeta N, Gnezda A, Ghetti B and Vidal R.
Journal PLoS ONE 8 (2), E56426 (2013)
Title 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) .
Author Fluhrer R, Martin L, Klier B, Haug-Kroper M, Grammer G, Nuscher B and Haass C.
Journal J. Biol. Chem. 287 (7), 5156-5163 (2012)
Title A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred .
Author Vidal R, Revesz T, Rostagno A, Kim E, Holton JL, Bek T, Bojsen-Moller M, Braendgaard H, Plant G, Ghiso J and Frangione B.
Journal Proc. Natl. Acad. Sci. U.S.A. 97 (9), 4920-4925 (2000)
Title Furin mediates enhanced production of fibrillogenic ABri peptides in familial British dementia .
Author Kim SH, Wang R, Gordon DJ, Bass J, Steiner DF, Lynn DG, Thinakaran G, Meredith SC and Sisodia SS.
Journal Nat. Neurosci. 2 (11), 984-988 (1999)
Title A stop-codon mutation in the BRI gene associated with familial British dementia .
Author Vidal R, Frangione B, Rostagno A, Mead S, Revesz T, Plant G and Ghiso J.
Journal Nature 399 (6738), 776-781 (1999)
Title cDNA sequence analysis, chromosomal assignment and expression pattern of the gene coding for integral membrane protein 2B .
Author Pittois K, Deleersnijder W and Merregaert J.
Journal Gene 217 (1-2), 141-149 (1998)
Title Luria testing in demented patients .
Author Ernst,B., Dalby,M.A. and Dalby,A.
Journal Acta Neurol. Scand. 46 (SUPPL 43:97-SUPPL 43), 98 (1970)

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