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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CHMP2B
charged multivesicular body protein 2B
Chromosome 3 Β· 3p11.2
NCBI Gene: 25978Ensembl: ENSG00000083937.10HGNC: HGNC:24537UniProt: A0A087WW88
141PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
lysosomal membranecytosolmidbodyamphisome membraneamyotrophic lateral sclerosisfrontotemporal dementiabehavioral variant of frontotemporal dementiaviral disease
✦AI Summary

CHMP2B (charged multivesicular body protein 2B) is a core component of the ESCRT-III complex that mediates critical membrane fission events in cellular trafficking and cytokinesis 1. The protein functions in autophagy, endolysosomal trafficking, and multivesicular body formation by recruiting the AAA-ATPase Vps4 for membrane abscission 1. CHMP2B undergoes post-translational regulation through SMYD2-mediated methylation at lysine 6, which controls its polymerization dynamics and timing of cytokinetic abscission 2. The protein also participates in ESCRT-III assembly through interactions with YAP1 and VPS4B, promoting autophagosome formation 3. Disease-associated mutations, particularly CHMP2BIntron5, cause C-terminal truncation that removes the Vps4 binding site and disrupts autoinhibition, leading to frontotemporal dementia (FTD-3) 1. In sporadic ALS, CHMP2B promotes pathological CHMP7-mediated nuclear pore complex injury, contributing to TDP-43 dysfunction 4. The protein's dysfunction converges with other ALS-associated genes in vesicle trafficking pathways, highlighting mechanistic overlap in neurodegeneration 5. CHMP2B represents a critical node in cellular membrane dynamics, with mutations causing autophagy impairment and neurodegeneration through both gain- and loss-of-function mechanisms 6.

Sources cited
1
CHMP2B is an ESCRT-III component responsible for membrane deformation in autophagy and endolysosomal trafficking, with mutations causing FTD-3
PMID: 26972529
2
CHMP2B is methylated by SMYD2 at lysine 6, regulating its polymerization and timing of cytokinetic abscission
PMID: 38740816
3
CHMP2B interacts with YAP1 and VPS4B in ESCRT-III assembly to promote autophagosome formation
PMID: 37005481
4
CHMP2B promotes pathological CHMP7-mediated nuclear pore complex injury in sporadic ALS
PMID: 39709457
5
CHMP2B mutations converge with other ALS genes in vesicle trafficking pathways
PMID: 29400714
6
CHMP2B dysfunction causes autophagy impairment and neurodegeneration
PMID: 34130600
Disease Associationsβ“˜21
amyotrophic lateral sclerosisOpen Targets
0.77Strong
frontotemporal dementiaOpen Targets
0.76Strong
behavioral variant of frontotemporal dementiaOpen Targets
0.75Strong
viral diseaseOpen Targets
0.46Moderate
DystoniaOpen Targets
0.46Moderate
familial amyotrophic lateral sclerosisOpen Targets
0.46Moderate
HIV infectionOpen Targets
0.46Moderate
prostate cancerOpen Targets
0.46Moderate
prostate carcinomaOpen Targets
0.43Moderate
COVID-19Open Targets
0.37Weak
frontotemporal dementia and/or amyotrophic lateral sclerosis 1Open Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
frozen shoulderOpen Targets
0.27Weak
ovarian neoplasmOpen Targets
0.26Weak
cancerOpen Targets
0.22Weak
morbid obesityOpen Targets
0.21Weak
genetic disorderOpen Targets
0.18Weak
Parkinson diseaseOpen Targets
0.13Weak
parkinsonian disorderOpen Targets
0.12Weak
vascular dementiaOpen Targets
0.11Weak
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7UniProt
Pathogenic Variants6
NM_014043.4(CHMP2B):c.617A>C (p.Gln206Pro)Likely pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
β˜…β˜†β˜†β˜†2023β†’ Residue 206
NM_014043.4(CHMP2B):c.618A>T (p.Gln206His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 206
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7|not provided
β˜†β˜†β˜†β˜†2010β†’ Residue 206
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
β˜†β˜†β˜†β˜†2010β†’ Residue 104
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7|not provided
β˜†β˜†β˜†β˜†2008β†’ Residue 165
NM_014043.4(CHMP2B):c.532-1G>CPathogenic
not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 7|Cervical cancer
β˜†β˜†β˜†β˜†2006
View on ClinVar β†—
Related Genes
TSG101Protein interaction99%STAMProtein interaction99%HGSProtein interaction99%IST1Protein interaction99%STAM2Protein interaction99%SNF8Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
92%
Heart
78%
Ovary
50%
Liver
48%
Lung
47%
Gene Interaction Network
Click a node to explore
CHMP2BTSG101STAMHGSIST1STAM2SNF8
PROTEIN STRUCTURE
Preparing viewer…
PDB2JQK Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.50LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.89 [0.55–1.50]
RankingsWhere CHMP2B stands among ~20K protein-coding genes
  • #3,249of 20,598
    Most Researched141 Β· top quartile
  • #3,332of 5,498
    Most Pathogenic Variants6
  • #15,187of 17,882
    Most Constrained (LOEUF)1.50
Genes detectedCHMP2B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Autophagy and ALS: mechanistic insights and therapeutic implications.
PMID: 34057020
Autophagy Β· 2022
1.00
2
Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.
PMID: 29400714
Nat Med Β· 2018
0.90
3
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
PMID: 34130600
Autophagy Β· 2022
0.80
4
Methylation of ESCRT-III components regulates the timing of cytokinetic abscission.
PMID: 38740816
Nat Commun Β· 2024
0.70
5
CHMP2B promotes CHMP7 mediated nuclear pore complex injury in sporadic ALS.
PMID: 39709457
Acta Neuropathol Commun Β· 2024
0.60