ITM2B

	Amyloidosis Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification • Primary amyloidosis • Secondary amyloidosis • Familial amyloidosis • Wild-type (senile) amyloidosis • Cardiac amyloidosis • Beta-2 microglobulin related amyloidosis • Gelsolin related amyloidosis • Lysozyme amyloid related amyloidosis • Leucocyte cell-derived chemotaxin 2 related amyloidosis • Fibrinogen A alpha-chain associated amyloidosis
Pathophysiology
Causes
Differentiating Amyloidosis from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography and Ultrasound
CT scan
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
ITM2B On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of ITM2B All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on ITM2B
CDC on ITM2B
ITM2B in the news
Blogs on ITM2B
Directions to Hospitals Treating Psoriasis
Risk calculators and risk factors for ITM2B

VALUE_ERROR (nil)
Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	Wikidata
View/Edit Human

Integral membrane protein 2B (ITM2B or BRI2) is a protein that in humans is encoded by the ITM2B gene.^[1]^[2]

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

↑ 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.
↑ "Entrez Gene: ITM2B integral membrane protein 2B".

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.
Ernst B, Dalby MA, Dalby A (1970). "Luria testing in demented patients". Acta Neurol. Scand. 46: Suppl 43:97–8. doi:10.1111/j.1600-0447.1970.tb01106.x. PMID 5466275.
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. doi:10.1038/21637. PMID 10391242.
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. 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. 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.
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. 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.
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.
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. PMID 16612984.

This article on a gene on human chromosome 13 is a stub. You can help Wikipedia by expanding it.

[pmid9795190-1] 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.

[entrez-2] "Entrez Gene: ITM2B integral membrane protein 2B".

[1]

[2]

ITM2B

References

Further reading

Navigation menu