Sequence in raw or FASTA format:
Homo sapiens integral membrane protein 2B (ITM2B), mRNA.
| RefSeq Version | NM_021999.4, 221316670 |
| Length | 1896 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| 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]. |
| RefSeq | NP_068839.1 |
| CDS | 224..1024 | Exon (1) | 1..340 | Exon (2) | 1..340 | Exon (3) | 341..469 | Exon (4) | 470..676 | Exon (5) | 677..787 | Exon (6) | 788..938 | Exon (7) | 939..1896 |
| Translation | MVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPDDVVPVGQRRAWCWCMCFG
LAFMLAGVILGGAYLYKYFALQPDDVYYCGIKYIKDDVILNEPSADAPAALYQTIEENIK
IFEEEEVEFISVPVPEFADSDPANIVHDFNKKLTAYLDLNLDKCYVIPLNTSIVMPPRNL
LELLINIKAGTYLPQSYLIHEHMVITDRIENIDHLGFFIYRLCHDKETYKLQRRETIKGI
QKREASNCFAIRHFENKFAVETLICS
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| Position | Chain | Variation | Link |
| 88..89 | + | a, g | dbSNP:11556902 |
| 161 | + | c, g | dbSNP:11556903 |
| 212 | + | a, c | dbSNP:11556904 |
| 219 | + | a, g | dbSNP:11556906 |
| 266 | + | a, g | dbSNP:11556905 |
| 304 | + | c, t | dbSNP:11556899 |
| 424 | + | c, t | dbSNP:17849339 |
| 478 | + | c, t | dbSNP:74074155 |
| 507 | + | a, c | dbSNP:113956182 |
| 547 | + | a, g | dbSNP:9332284 |
| 715 | + | c, t | dbSNP:11556900 |
| 806 | + | a, c | dbSNP:11556901 |
| 1022 | + | a, t | dbSNP:104894417 |
| 1063 | + | c, t | dbSNP:15059 |
| 1133 | + | a, c | dbSNP:111489798 |
| 1167 | + | a, t | dbSNP:9332304 |
| complement(1188) | - | t, c | dbSNP:11556898 |
| 1192 | + | a, t | dbSNP:1053852 |
| 1249 | + | a, g | dbSNP:9332305 |
| 1302 | + | a, c | dbSNP:111774271 |
| 1309 | + | c, t | dbSNP:9332306 |
| 1533 | + | a, c | dbSNP:3194840 |
| 1726 | + | a, c | dbSNP:9534999 |
| Gene Symbol | ITM2B |
| Gene Synonym | ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD |
| Chromosome | 13 |
| Locus Map | 13q14.3 |
| All Transcripts | NM_021999 |
| Title | Memory deficits due to familial British dementia BRI2 mutation are caused by loss of BRI2 function rather than amyloidosis . |
| Author | Tamayev,R., Giliberto,L., Li,W., d'Abramo,C., Arancio,O., Vidal,R. and D'Adamio,L. |
| Journal | J. Neurosci. 30 (44), 14915-14924 (2010) |
| Title | 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 . |
| Author | Peng,S., Fitzen,M., Jornvall,H. and Johansson,J. |
| Journal | Biochem. Biophys. Res. Commun. 393 (3), 356-361 (2010) |
| Title | BRI3 inhibits amyloid precursor protein processing in a mechanistically distinct manner from its homologue dementia gene BRI2 . |
| Author | Matsuda,S., Matsuda,Y. and D'Adamio,L. |
| Journal | J. Biol. Chem. 284 (23), 15815-15825 (2009) |
| Title | CD74 interacts with APP and suppresses the production of Abeta . |
| Author | Matsuda,S., Matsuda,Y. and D'Adamio,L. |
| Journal | Mol Neurodegener 4, 41 (2009) |
| Title | BRI2 as a central protein involved in neurodegeneration . |
| Author | Tsachaki,M., Ghiso,J. and Efthimiopoulos,S. |
| Journal | Biotechnol J 3 (12), 1548-1554 (2008) |
| Title | Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning . |
| Author | Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X., Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H., Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J., Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M., Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 97 (17), 9543-9548 (2000) |
| 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 | 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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