• Gene id: 27243

Gene Summary

• Gene Symbol: CHMP2A   Gene   UCSC   Ensembl
• Aliases: BC-2, BC2, CHMP2, VPS2, VPS2A
• Gene name: charged multivesicular body protein 2A
• Alternate names: charged multivesicular body protein 2a, VPS2 homolog A, chromatin modifying protein 2A, putative breast adenocarcinoma marker (32kD), putative breast adenocarcinoma marker BC-2, vacuolar protein sorting-associated protein 2-1, vps2-1,
• Gene location: 19q13.43 (63523333: 63548986)     Exons: 16     NC_000017.11
• Gene summary(Entrez): CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor p
• OMIM: 610893

SNPs

rs4919686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102832492A>C
NC_000010.10   g.104592249A>C
NG_007955.1   g.10042T>G|SEQ=[A/C]|GENE=CYP17A1
CYP17A1-AS1   102724307

Protein Summary

• Protein general information: O43633  
  • Name: Charged multivesicular body protein 2a (Chromatin modifying protein 2a) (CHMP2a) (Putative breast adenocarcinoma marker BC 2) (Vacuolar protein sorting associated protein 2 1) (Vps2 1) (hVps2 1)
  • Length: 222  
  • Mass: 25104
• Sequence:

  MDLLFGRRKTPEELLRQNQRALNRAMRELDRERQKLETQEKKIIADIKKMAKQGQMDAVRIMAKDLVRTRRYVRK
  FVLMRANIQAVSLKIQTLKSNNSMAQAMKGVTKAMGTMNRQLKLPQIQKIMMEFERQAEIMDMKEEMMNDAIDDA
  MGDEEDEEESDAVVSQVLDELGLSLTDELSNLPSTGGSLSVAAGGKKAEAAASALADADADLEERLKNLRRD

• Structural information:
  • Interpro: IPR005024  
  • DIP: 48533
  • STRING: ENSP00000469240
• Other Databases: GeneCards:  CHMP2A  Malacards:  CHMP2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000785	chromatin	IDA	colocalizes with
GO:1904903	ESCRT III complex disassembly	NAS	biological process
GO:0036258	multivesicular body assembly	TAS	biological process
GO:0000815	ESCRT III complex	TAS	cellular component
GO:0016236	macroautophagy	TAS	biological process
GO:0039702	viral budding via host ESCRT complex	TAS	biological process
GO:0045324	late endosome to vacuole transport	IBA	biological process
GO:0032509	endosome transport via multivesicular body sorting pathway	IBA	biological process
GO:0005771	multivesicular body	IBA	cellular component
GO:0015031	protein transport	IBA	biological process
GO:0000815	ESCRT III complex	IBA	cellular component
GO:0000815	ESCRT III complex	IDA	cellular component
GO:0005635	nuclear envelope	IDA	cellular component
GO:0061952	midbody abscission	IMP	biological process
GO:0010458	exit from mitosis	IMP	biological process
GO:0031468	nuclear envelope reassembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
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:0016032	viral process	IEA	biological process
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: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: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:0005829	cytosol	IEA	cellular component
GO:0031902	late 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:0050792	regulation of viral process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0039702	viral budding via host ESCRT complex	IGI	biological process
GO:0019904	protein domain specific 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:0051260	protein homooligomerization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0039702	viral budding via host ESCRT complex	IMP	biological process
GO:0051258	protein polymerization	IMP	biological process
GO:1902188	positive regulation of viral release from host cell	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045184	establishment of protein localization	IMP	biological process
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:0019904	protein domain specific binding	IPI	molecular function
GO:1902188	positive regulation of viral release from host cell	IGI	biological process
GO:1902188	positive regulation of viral release from host cell	IGI	biological process
GO:1902188	positive regulation of viral release from host cell	IMP	biological process
GO:1901673	regulation of mitotic spindle assembly	IMP	biological process
GO:0007080	mitotic metaphase plate congression	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0010324	membrane invagination	IMP	biological process
GO:0030117	membrane coat	IMP	cellular component
GO:0051258	protein polymerization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010824	regulation of centrosome duplication	IMP	biological process
GO:0006997	nucleus organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1903543	positive regulation of exosomal secretion	IMP	biological process
GO:0031210	phosphatidylcholine binding	IMP	molecular function
GO:0060548	negative regulation of cell death	IMP	biological process
GO:1903723	negative regulation of centriole elongation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04217	Necroptosis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)