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


RefSeq Accession Definition Services Price Order
NM_021999 Homo sapiens integral membrane protein 2B (ITM2B), mRNA. ORF Sequence $232.29
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RefSeq Version NM_021999.4, 221316670
Length 1896 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens integral membrane protein 2B (ITM2B), mRNA.
Product integral membrane protein 2B
Comment

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)71..73
Misc Feature(3)386..448
Misc Feature(4)386..448
Misc Feature(5)527..625
Misc Feature(6)635..916
Misc Feature(7)950..955
Exon (1)1..340
Gene:ITM2B
Gene Synonym:ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2
Exon (2)341..469
Gene:ITM2B
Gene Synonym:ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2
Exon (3)470..676
Gene:ITM2B
Gene Synonym:ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2
Exon (4)677..787
Gene:ITM2B
Gene Synonym:ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2
Exon (5)788..938
Gene:ITM2B
Gene Synonym:ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2
Exon (6)939..1896
Gene:ITM2B
Gene Synonym:ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2
Translation MVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPDDVVPVGQRRAWCWCMCFG LAFMLAGVILGGAYLYKYFALQPDDVYYCGIKYIKDDVILNEPSADAPAALYQTIEENIK IFEEEEVEFISVPVPEFADSDPANIVHDFNKKLTAYLDLNLDKCYVIPLNTSIVMPPRNL LELLINIKAGTYLPQSYLIHEHMVITDRIENIDHLGFFIYRLCHDKETYKLQRRETIKGI QKREASNCFAIRHFENKFAVETLICS
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Position Chain Variation Link
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+dbSNP:
346+a, gdbSNP:11556907
392+a, cdbSNP:149490262
424+c, tdbSNP:17849339
470+dbSNP:
470+c, tdbSNP:201982776
476+a, gdbSNP:143931252
478+c, tdbSNP:74074155
507+a, cdbSNP:113956182
547+a, gdbSNP:9332284
626+c, tdbSNP:200085682
715+dbSNP:
715+c, tdbSNP:11556900
723+c, tdbSNP:141232990
743+a, gdbSNP:146286944
755+a, gdbSNP:180832133
806+dbSNP:
806+a, cdbSNP:11556901
811+c, tdbSNP:201852577
846+a, gdbSNP:201399334
885+a, gdbSNP:199884227
974+a, gdbSNP:139394220
979+g, tdbSNP:201018568
997+c, tdbSNP:144217555
1000+c, tdbSNP:146553069
1022+a, tdbSNP:104894417
1063+c, tdbSNP:15059
1133+a, cdbSNP:111489798
1167+a, tdbSNP:9332304
1188+c, tdbSNP: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
Chromosome13
Locus Map13q14.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_021999 Homo sapiens integral membrane protein 2B (ITM2B), mRNA. Full Length $549.84
ORF Sequence $232.29
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 BRI2 protein regulates beta-amyloid degradation by increasing levels of secreted insulin-degrading enzyme (IDE) .
Author Kilger,E., Buehler,A., Woelfing,H., Kumar,S., Kaeser,S.A., Nagarathinam,A., Walter,J., Jucker,M. and Coomaraswamy,J.
Journal J. Biol. Chem. 286 (43), 37446-37457 (2011)
Title Glycosylation of BRI2 on asparagine 170 is involved in its trafficking to the cell surface but not in its processing by furin or ADAM10 .
Author Tsachaki,M., Serlidaki,D., Fetani,A., Zarkou,V., Rozani,I., Ghiso,J. and Efthimiopoulos,S.
Journal Glycobiology 21 (10), 1382-1388 (2011)
Title APP heterozygosity averts memory deficit in knockin mice expressing the Danish dementia BRI2 mutant .
Author Tamayev,R., Matsuda,S., Giliberto,L., Arancio,O. and D'Adamio,L.
Journal EMBO J. 30 (12), 2501-2509 (2011)
Title Increased AbetaPP processing in familial Danish dementia patients .
Author Matsuda,S., Tamayev,R. and D'Adamio,L.
Journal J. Alzheimers Dis. 27 (2), 385-391 (2011)
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,J.L., 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,S.H., Wang,R., Gordon,D.J., Bass,J., Steiner,D.F., Lynn,D.G., Thinakaran,G., Meredith,S.C. and Sisodia,S.S.
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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