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(Top) 1 References 2 Further reading

ITM2B

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ITM2B

Identifiers

Aliases

ITM2B, ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, imBRI2, RDGCA, integral membrane protein 2B

External IDs

OMIM: 603904; MGI: 1309517; HomoloGene: 7388; GeneCards: ITM2B; OMA:ITM2B - orthologs

Gene location (Human)

Chr.	Chromosome 13 (human)^[1]

Band	13q14.2	Start	48,232,612 bp^[1]
Band	13q14.2	End	48,270,357 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 14 (mouse)^[2]

Band	14 D3\|14 38.88 cM	Start	73,599,666 bp^[2]
Band	14 D3\|14 38.88 cM	End	73,622,729 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

glomerulus

metanephric glomerulus

corpus epididymis

germinal epithelium

kidney tubule

visceral pleura

jejunal mucosa

renal medulla

parietal pleura

caput epididymis

Top expressed in

stroma of bone marrow

vestibular sensory epithelium

skin of external ear

molar

lobe of prostate

transitional epithelium of urinary bladder

right lung

calvaria

right lung lobe

efferent ductule

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	amyloid-beta binding protein binding ATP binding
Cellular component	integral component of organelle membrane extracellular region integral component of membrane Golgi-associated vesicle membrane Golgi membrane endosome plasma membrane Golgi apparatus endosome membrane extracellular exosome membrane intracellular membrane-bounded organelle extracellular space
Biological process	nervous system development negative regulation of amyloid precursor protein biosynthetic process
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


9445


16432

Ensembl


ENSG00000136156


ENSMUSG00000022108

UniProt


Q9Y287


O89051

RefSeq (mRNA)


NM_021999


NM_008410

RefSeq (protein)


NP_068839


NP_032436

Location (UCSC)

Chr 13: 48.23 – 48.27 Mb

Chr 14: 73.6 – 73.62 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Integral membrane protein 2B (ITM2BorBRI2) is a protein that in humans is encoded by the ITM2B gene.^[5]^[6]

ITM2BorBRI2 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[edit]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000136156 – Ensembl, May 2017

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022108 – Ensembl, May 2017

^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

^ 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".

Further reading[edit]

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. PMC 11139122. PMID 15968464. S2CID 40812895.

Ernst B, Dalby MA, Dalby A (1970). "Luria testing in demented patients". Acta Neurol. Scand. 46 (S43): Suppl 43:97–8. doi:10.1111/j.1600-0447.1970.tb01106.x. PMID 5466275. S2CID 221441989.

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. Bibcode:1999Natur.399..776V. doi:10.1038/21637. PMID 10391242. S2CID 34349437.

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. Bibcode:2000PNAS...97.4920V. 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. Bibcode:2000PNAS...97.9543H. 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. S2CID 27728145.

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. Bibcode:2002PNAS...9916899M. 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. S2CID 20479606.

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. S2CID 11582717.

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. PMC 8095812. PMID 16612984.

Amyloidosis

Common amyloid forming proteins

Systemic amyloidosis

Organ-limited amyloidosis

Heart	AANF/Isolated atrial
Brain	Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease
Kidney	AApoA1+AFib+ALys/Familial renal
Skin	Primary cutaneous amyloidosis Amyloid purpura
Endocrine	Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma Type 2 diabetes

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

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