• Gene id: 79643

Gene Summary

• Gene Symbol: CHMP6   Gene   UCSC   Ensembl
• Aliases: VPS20
• Gene name: charged multivesicular body protein 6
• Alternate names: charged multivesicular body protein 6, chromatin-modifying protein 6, hVps20, vacuolar protein sorting-associated protein 20,
• Gene location: 17q25.3 (80991840: 81000132)     Exons: 8     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in bio
• OMIM: 610901

Protein Summary

• Protein general information: Q96FZ7  
  • Name: Charged multivesicular body protein 6 (Chromatin modifying protein 6) (Vacuolar protein sorting associated protein 20) (Vps20) (hVps20)
  • Length: 201  
  • Mass: 23485
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MGNLFGRKKQSRVTEQDKAILQLKQQRDKLRQYQKRIAQQLERERALARQLLRDGRKERAKLLLKKKRYQEQLLD
  RTENQISSLEAMVQSIEFTQIEMKVMEGLQFGNECLNKMHQVMSIEEVERILDETQEAVEYQRQIDELLAGSFTQ
  EDEDAILEELSAITQEQIELPEVPSEPLPEKIPENVPVKARPRQAELVAAS

• Structural information:
  • Interpro: IPR005024  
  • PDB: 2K3W 3HTU
  • PDBsum: 2K3W 3HTU
  • STRING: ENSP00000317468
• Other Databases: GeneCards:  CHMP6  Malacards:  CHMP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036258	multivesicular body assembly	TAS	biological process
GO:0000815	ESCRT III complex	TAS	cellular component
GO:1904902	ESCRT III complex assembly	NAS	biological process
GO:0016236	macroautophagy	TAS	biological process
GO:0000815	ESCRT III complex	IBA	cellular component
GO:0006900	vesicle budding from membrane	IBA	biological process
GO:0032511	late endosome to vacuole transport via multivesicular body sorting pathway	IBA	biological process
GO:0005771	multivesicular body	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007034	vacuolar transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016197	endosomal transport	TAS	biological process
GO:0019058	viral life cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031902	late endosome membrane	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0039702	viral budding via host ESCRT complex	IDA	biological process
GO:0000815	ESCRT III complex	IDA	cellular component
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0010008	endosome membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1903541	regulation of exosomal secretion	IMP	NOT|biological process
GO:0042176	regulation of protein catabolic process	IMP	biological process
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006997	nucleus organization	IMP	biological process
GO:0007175	negative regulation of epidermal growth factor-activated receptor activity	IMP	biological process
GO:0007080	mitotic metaphase plate congression	IMP	biological process
GO:0061952	midbody abscission	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04217	Necroptosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq