CHMP2B (charged multivesicular body protein 2B)

2016-10-01  

Identity

HGNC
LOCATION
3p11.2
LOCUSID
ALIAS
ALS17,CHMP2.5,DMT1,FTDALS7,VPS2-2,VPS2B
FUSION GENES

Other Information

Locus ID:

NCBI: 25978
MIM: 609512
HGNC: 24537
Ensembl: ENSG00000083937

Variants:

dbSNP: 25978
ClinVar: 25978
TCGA: ENSG00000083937
COSMIC: CHMP2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000083937ENST00000263780Q9UQN3
ENSG00000083937ENST00000263780B2RE76
ENSG00000083937ENST00000471660Q9UQN3
ENSG00000083937ENST00000472024A0A087WW88
ENSG00000083937ENST00000494980C9J0A7

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
ESCRT-III complexKEGGhsa_M00412
ESCRT-III complexKEGGM00412
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Late Phase of HIV Life CycleREACTOMER-HSA-162599
Budding and maturation of HIV virionREACTOMER-HSA-162588
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Endosomal Sorting Complex Required For Transport (ESCRT)REACTOMER-HSA-917729
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
387408162024Methylation of ESCRT-III components regulates the timing of cytokinetic abscission.0
387408162024Methylation of ESCRT-III components regulates the timing of cytokinetic abscission.0
349977572022Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.4
364149972022The enhanced association between mutant CHMP2B and spastin is a novel pathological link between frontotemporal dementia and hereditary spastic paraplegias.2
349977572022Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.4
364149972022The enhanced association between mutant CHMP2B and spastin is a novel pathological link between frontotemporal dementia and hereditary spastic paraplegias.2
335833032021Differential levels of CHMP2B, LLPH, and SLC25A51 proteins in secondary renal amyloidosis.0
338324852021The ESCRT-III isoforms CHMP2A and CHMP2B display different effects on membranes upon polymerization.14
342816222021The ESCRT-III protein VPS4, but not CHMP4B or CHMP2B, is pathologically increased in familial and sporadic ALS neuronal nuclei.10
346782062021Astrocytic reactivity triggered by defective autophagy and metabolic failure causes neurotoxicity in frontotemporal dementia type 3.17
335833032021Differential levels of CHMP2B, LLPH, and SLC25A51 proteins in secondary renal amyloidosis.0
338324852021The ESCRT-III isoforms CHMP2A and CHMP2B display different effects on membranes upon polymerization.14
342816222021The ESCRT-III protein VPS4, but not CHMP4B or CHMP2B, is pathologically increased in familial and sporadic ALS neuronal nuclei.10
346782062021Astrocytic reactivity triggered by defective autophagy and metabolic failure causes neurotoxicity in frontotemporal dementia type 3.17
315874682020Expression of a human variant of CHMP2B linked to neurodegeneration in Drosophila external sensory organs leads to cell fate transformations associated with increased Notch activity.2

Citation

Dessen P

CHMP2B (charged multivesicular body protein 2B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55963/chromosome-explorer/submit-meetings/