HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CHMP4B
charged multivesicular body protein 4B
Chromosome 20 · 20q11.22
NCBI Gene: 128866Ensembl: ENSG00000101421.5HGNC: HGNC:16171UniProt: Q9H444
164PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lysosomal membraneidentical protein bindingprotein homodimerization activitycadherin bindingPosterior polar cataractearly-onset non-syndromic cataractneurodegenerative diseaseviral disease
✦AI Summary

CHMP4B (charged multivesicular body protein 4B) is an ESCRT-III complex component essential for membrane fission and cellular homeostasis. Functionally, CHMP4B mediates intraluminal vesicle formation in endosomes and facilitates autophagosome-lysosome fusion through interaction with ALIX and other ESCRT machinery 1. CHMP4B regulates cytokinesis control and participates in exosome biogenesis, particularly tetraspanin sorting 1. Mechanistically, CHMP4B functions in lysosomal quality control and autophagy regulation. It interacts with IST1 to promote ESCRT-III assembly and autophagosome-lysosome fusion 2, and is controlled by HSP90β-mediated regulation 3. During pathological stress, CHMP4B activation initiates cell repair machinery in response to pyroptosis and oxidative damage 4. PRP4K regulates CHMP4B expression through splicing, controlling autophagosome-lysosome fusion in an evolutionarily conserved manner 5. Clinically, CHMP4B dysfunction associates with cataract formation; HSP90β downregulation causes CHMP4B upregulation, leading to excessive lens epithelial cell division and p53-mediated apoptosis 3. CHMP4B dysregulation also contributes to intervertebral disc degeneration through autophagy impairment 6 and kidney stone formation via insufficient cell repair 4. CHMP4B overexpression protects against these pathologies, highlighting its therapeutic potential. Additionally, CHMP4B is exploited by viruses (CSFV, HIV) for membrane remodeling and viral release 78.

Sources cited
1
CHMP4B is an ESCRT-III protein involved in membrane deformation, fission, and exosomal protein sorting
PMID: 32049272
2
HSP90β negatively regulates CHMP4B; CHMP4B upregulation causes excessive lens epithelial cell division and p53-mediated apoptosis leading to cataract formation
PMID: 37487085
3
CHMP4B-dependent cell repair is activated during pyroptosis; CHMP4B overexpression attenuates kidney stone formation
PMID: 40384863
4
CHMP4B is a critical effector of lysosomal quality control; its restoration protects against mechanical overloading-induced intervertebral disc degeneration
PMID: 39675125
5
CHMP4B interacts with IST1 to enhance ESCRT-III complex assembly and autophagosome-lysosome fusion
PMID: 39316516
6
PRP4K regulates CHMP4B through splicing; CHMP4B is essential for autophagosome-lysosome fusion in a conserved mechanism
PMID: 40531620
7
CHMP4B is recruited to autophagosomes during virus-induced mitophagy and is exploited by classical swine fever virus
PMID: 40574328
8
CHMP4B and VPS4A reverse GSDMD-mediated pyroptosis through cell membrane remodeling in endometrial carcinoma
PMID: 37931722
Disease Associationsⓘ21
Posterior polar cataractOpen Targets
0.66Moderate
early-onset non-syndromic cataractOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
viral diseaseOpen Targets
0.46Moderate
HIV infectionOpen Targets
0.46Moderate
diabetes mellitusOpen Targets
0.46Moderate
type 2 diabetes mellitusOpen Targets
0.44Moderate
COVID-19Open Targets
0.37Weak
early-onset posterior polar cataractOpen Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
ovarian neoplasmOpen Targets
0.28Weak
psoriatic arthritisOpen Targets
0.28Weak
vertebral column disorderOpen Targets
0.27Weak
Nasal polyposisOpen Targets
0.26Weak
VitiligoOpen Targets
0.26Weak
colorectal carcinomaOpen Targets
0.15Weak
Mobius syndromeOpen Targets
0.08Suggestive
skin neoplasmOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
endometrial cancerOpen Targets
0.05Suggestive
Cataract 31, multiple typesUniProt
Pathogenic Variants3
NM_176812.5(CHMP4B):c.200A>G (p.Gln67Arg)Likely pathogenic
Cataract 31 multiple types
★☆☆☆2023→ Residue 67
NM_176812.5(CHMP4B):c.386A>T (p.Asp129Val)Pathogenic
Cataract 31 multiple types
☆☆☆☆2007→ Residue 129
NM_176812.5(CHMP4B):c.481G>A (p.Glu161Lys)Pathogenic
Cataract 31 multiple types
☆☆☆☆2007→ Residue 161
View on ClinVar ↗
Related Genes
PTPN23Protein interaction99%BROXProtein interaction98%VPS25Protein interaction97%RNF103-CHMP3Protein interaction97%TSG101Protein interaction97%SNF8Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
93%
Heart
76%
Lung
68%
Ovary
55%
Liver
36%
Gene Interaction Network
Click a node to explore
CHMP4BPTPN23BROXVPS25RNF103-CHMP3TSG101SNF8
PROTEIN STRUCTURE
Preparing viewer…
PDB5MK2 · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.21Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.04 [0.01–0.21]
RankingsWhere CHMP4B stands among ~20K protein-coding genes
  • #2,728of 20,598
    Most Researched164 · top quartile
  • #3,951of 5,498
    Most Pathogenic Variants3
  • #494of 17,882
    Most Constrained (LOEUF)0.21 · top 5%
Genes detectedCHMP4B
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
ALIX- and ESCRT-III-dependent sorting of tetraspanins to exosomes.
PMID: 32049272
J Cell Biol · 2020
1.00
2
HSP90β prevents aging-related cataract formation through regulation of the charged multivesicular body protein (CHMP4B) and p53.
PMID: 37487085
Proc Natl Acad Sci U S A · 2023
0.90
3
Regulating the balance between GSDMD-mediated pyroptosis and CHMP4B-dependent cell repair attenuates calcium oxalate kidney stone formation.
PMID: 40384863
Int J Biol Sci · 2025
0.80
4
Restoration of lysosomal function attenuates autophagic flux impairment in nucleus pulposus cells and protects against mechanical overloading-induced intervertebral disc degeneration.
PMID: 39675125
Autophagy · 2025
0.70
5
Single-cell RNA sequencing reveals microenvironmental infiltration in non-small cell lung cancer with different responses to immunotherapy.
PMID: 39228151
J Gene Med · 2024
0.68