Property Summary

NCBI Gene PubMed Count 70
Grant Count 25
R01 Count 11
Funding $2,084,100.26
PubMed Score 52.97
PubTator Score 67.10

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
Multiple myeloma 1.587 0.005
psoriasis 1.100 0.001
medulloblastoma, large-cell -1.600 0.001
primary pancreatic ductal adenocarcinoma 1.139 0.020
intraductal papillary-mucinous neoplasm ... 1.600 0.008
lung cancer 1.100 0.007
spina bifida -1.713 0.044
progressive supranuclear palsy -1.600 0.021
ovarian cancer 2.700 0.000
dermatomyositis 1.300 0.001

Gene RIF (36)

PMID Text
26651479 Endogenous TMEM106B was partly sequestered in CHMP2B-positive structures. SNP T185 was more associated with CHMP2B than SNP S185, and it enhanced neurotoxicity caused by CHMP2B(Intron5) compared to S185-expressing cells.
26358247 Study showed that mutant CHMP2B causes the pathological accumulation of endolysosomal components early in the frontotemporal dementia disease course
24440309 Protein kinase CK2 alpha is involved in the phosphorylation of the ESCRT-III subunits CHMP3 and CHMP2B, as well as of VPS4B/SKD1, an ATPase that mediates ESCRT-III disassembly.
24107264 ALIX, CHMP2A/B, CHMP4A/B, and VPS4A/B proteins are required for the budding of HIV-1 Gag and the HIV-1 infectivity
24095276 Data indicate that knockdown of syntaxin 13 (syx13) further increased the cellular toxicity caused by muaant CHMP2B (CHMP2BIntron5) expression.
23142962 Subjects with CHMP2B mutation show cognitive changes dominated by executive dysfunctions, years before they fulfil diagnostic criteria of FTD.
22989140 CHMP2B immunoreactivity was increased in the dorsal motor nucleus of the vagus nerve in Parkinson's disease and incidental Lewy body disease brains
22947304 These findings suggest that endosomal and autophagic pathway is associated with degradation or formation of alpha-synuclein aggregates in alpha-synucleinopathy.
22786763 Direct link between disease-causing mutations and the cellular phenotype in cells originating from CHMP2B mutation patients with frontotemporal dementia.
22521643 This study provided a better understanding of the cellular pathogenesis of neurodegenerative diseases associated with various missense mutations of CHMP2B as well as endocytic defects.
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AA Sequence

MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLELEIKKMAKIGNKEACKVLAKQLVHLRK      1 - 70
QKTRTFAVSSKVTSMSTQTKVMNSQMKMAGAMSTTAKTMQAVNKKMDPQKTLQTMQNFQKENMKMEMTEE     71 - 140
MINDTLDDIFDGSDDEEESQDIVNQVLDEIGIEISGKMAKAPSAARSLPSASTSKATISDEEIERQLKAL    141 - 210
GVD                                                                       211 - 213
//

Text Mined References (78)

PMID Year Title
26651479 2015 TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26358247 2015 Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.
25468996 2014 E-cadherin interactome complexity and robustness resolved by quantitative proteomics.
25158072 2015 Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.
24878737 2014 Structure of cellular ESCRT-III spirals and their relationship to HIV budding.
24440309 2014 CK2 involvement in ESCRT-III complex phosphorylation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24107264 2013 ESCRT requirements for EIAV budding.
24095276 2013 Syntaxin 13, a genetic modifier of mutant CHMP2B in frontotemporal dementia, is required for autophagosome maturation.
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