Property Summary

NCBI Gene PubMed Count 55
Grant Count 124
R01 Count 41
Funding $27,457,484.31
PubMed Score 330.54
PubTator Score 111.49

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
psoriasis 1.300 0.000
medulloblastoma, large-cell -1.400 0.001
lung cancer -1.200 0.001
lung adenocarcinoma -1.200 0.000
Breast cancer -1.200 0.000
ovarian cancer -2.400 0.000

Synonym

Accession Q9Y287 Q5W0A3 Q96B24 Q9NYH1
Symbols BRI
FBD
ABRI
BRI2
E25B
E3-16
RDGCA
imBRI2
BRICD2B

Gene

Gene RIF (36)

PMID Text
26528887 Data depict roles for Bri2 and apolipoprotein E4 (ApoE4) proteins in a long-term memory regulation pathway. A single mutation in one Itm2b/Bri2 allele can affect both long-term and working memory, while ApoE4 seems to regulate short-term/working memory.
26515131 when BRI2 is phosphorylated a significant increase in neuronal outgrowth and differentiation is evident
26459115 familial Danish dementia mutation and pE posttranslational modification are primary elements driving intact ADan into an amyloidogenic/neurotoxic pathway while truncations at the C-terminus eliminate the pro-amyloidogenic characteristics of the molecule
25957407 Cystine-linked oligomers of ABri are toxic to neurons and block long-term potentiation.
25557390 Data indicate integral membrane 2B (ITM2B) as a target of B-cell CLL/lymphoma 6 protein (BCL6) repression in lymphoma.
25261792 Data indicate that the mutation originates the highly amyloidogenic molecule integral membrane protein 2B ABri.
24524963 It binds amyloid precursor protein to halt amyloid-b production and inhibits amyloid-b aggregation via its BRICHOS-domain suggesting a link between BRI2 and Alzheimer's disease (AD)
24473189 This review support the hypothesis that BRI2 change during disease devel-opment, and thus may have a role in Alzheimer disease.
24099305 Structural modeling of transmembrane (BRICHOS) domains of BRI2/ITM2B and SFTPC (pulmonary surfactant protein C) precursor identifies conserved region structurally complementary to beta-sheet/amyloid-prone region in BRICHOS domain-containing proteins.
24026677 Findings highlight pathogenic mechanism(s) associated with ITM2B mutations underlying dementia or retinal disease and add a new candidate to the list of genes involved in inherited retinal dystrophies.
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AA Sequence

MVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPDDVVPVGQRRAWCWCMCFGLAFMLAGVIL      1 - 70
GGAYLYKYFALQPDDVYYCGIKYIKDDVILNEPSADAPAALYQTIEENIKIFEEEEVEFISVPVPEFADS     71 - 140
DPANIVHDFNKKLTAYLDLNLDKCYVIPLNTSIVMPPRNLLELLINIKAGTYLPQSYLIHEHMVITDRIE    141 - 210
NIDHLGFFIYRLCHDKETYKLQRRETIKGIQKREASNCFAIRHFENKFAVETLICS                  211 - 266
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Text Mined References (58)

PMID Year Title
26528887 2015 Interaction of ApoE3 and ApoE4 isoforms with an ITM2b/BRI2 mutation linked to the Alzheimer disease-like Danish dementia: Effects on learning and memory.
26515131 2016 BRI2 and BRI3 are functionally distinct phosphoproteins.
26459115 2016 Oxidative stress and mitochondria-mediated cell death mechanisms triggered by the familial Danish dementia ADan amyloid.
25957407 2015 The Familial British Dementia Mutation Promotes Formation of Neurotoxic Cystine Cross-linked Amyloid Bri (ABri) Oligomers.
25557390 2015 The ITM2B (BRI2) gene is a target of BCL6 repression: Implications for lymphomas and neurodegenerative diseases.
25416956 2014 A proteome-scale map of the human interactome network.
25261792 2014 Mitochondrial dysfunction induced by a post-translationally modified amyloid linked to a familial mutation in an alternative model of neurodegeneration.
24524963 2014 BRI2-BRICHOS is increased in human amyloid plaques in early stages of Alzheimer's disease.
24473189 2014 Role of BRI2 in dementia.
24099305 2013 The BRICHOS domain, amyloid fibril formation, and their relationship.
More...