1. Gene
  2. CHMP2A - charged multivesicular body protein 2A Gene

CHMP2A - charged multivesicular body protein 2A Gene

Homo sapiens

Also known as BC2; BC-2; VPS2; CHMP2; VPS2A

Gene ID: 27243 | Gene type: protein coding

About CHMP2A

Cytogenetic location: 19q13.43 Genomic coordinates (GRCh38): 19:58,551,566-58,555,105 (from NCBI)

This gene has 11 transcripts (splice variants), 199 orthologues and 4 paralogues. Ubiquitous expression in colon (RPKM 34.2), kidney (RPKM 32.8) and 25 other tissues.

Summary

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 Proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

CHMP2A Products(2)

mRNA Protein Name
NM_014453.4 NP_055268.1 charged multivesicular body protein 2a
NM_198426.3 NP_940818.1 charged multivesicular body protein 2a
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables phosphatidylcholine binding IMP
IMP: Inferred from mutant phenotype
18687924 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
14505570 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
17928862 GOA
Biological Process GO Annotation Evidence Reference Source
involved in autophagosome maturation IMP
IMP: Inferred from mutant phenotype
17984323 GOA
involved in autophagy IMP
IMP: Inferred from mutant phenotype
17984323 GOA
involved in establishment of protein localization IMP
IMP: Inferred from mutant phenotype
23045692 GOA
involved in exit from mitosis IMP
IMP: Inferred from mutant phenotype
26040712 GOA
involved in late endosome to lysosome transport IMP
IMP: Inferred from mutant phenotype
17984323 GOA
involved in membrane invagination IMP
IMP: Inferred from mutant phenotype
24878737 GOA
involved in midbody abscission IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in mitotic metaphase chromosome alignment IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in multivesicular body sorting pathway IDA
IDA: Inferred from direct assay
16554368 GOA
involved in negative regulation of centriole elongation IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in nuclear membrane reassembly IMP
IMP: Inferred from mutant phenotype
26040712 GOA
involved in nucleus organization IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in plasma membrane repair IDA
IDA: Inferred from direct assay
24482116 GOA
involved in positive regulation of exosomal secretion IMP
IMP: Inferred from mutant phenotype
22660413 GOA
involved in protein homooligomerization IMP
IMP: Inferred from mutant phenotype
18687924 GOA
involved in protein polymerization IMP
IMP: Inferred from mutant phenotype
23051622 GOA
involved in regulation of centrosome duplication IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in regulation of mitotic spindle assembly IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IDA
IDA: Inferred from direct assay
17984323 GOA
involved in viral budding from plasma membrane IDA
IDA: Inferred from direct assay
24878737 GOA
involved in viral budding from plasma membrane IMP
IMP: Inferred from mutant phenotype
14505570 GOA
involved in viral budding via host ESCRT complex IDA
IDA: Inferred from direct assay
24878737 GOA
involved in viral budding via host ESCRT complex IGI
IGI: Inferred from genetic interaction
24107264 GOA
involved in viral budding via host ESCRT complex IMP
IMP: Inferred from mutant phenotype
23051622 GOA
involved in viral release from host cell IGI
IGI: Inferred from genetic interaction
23051622 GOA
involved in viral release from host cell IMP
IMP: Inferred from mutant phenotype
23051622 GOA
Cellular Component GO Annotation Evidence Reference Source
part of ESCRT III complex IDA
IDA: Inferred from direct assay
18687924 GOA
located in amphisome membrane IDA
IDA: Inferred from direct assay
17984323 GOA
located in autophagosome membrane IDA
IDA: Inferred from direct assay
17984323 GOA
located in chromatin IDA
IDA: Inferred from direct assay
28242692 GOA
located in kinetochore IDA
IDA: Inferred from direct assay
26040712 GOA
located in kinetochore microtubule IDA
IDA: Inferred from direct assay
26040712 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
17984323 GOA
part of membrane coat IMP
IMP: Inferred from mutant phenotype
24878737 GOA
located in midbody IDA
IDA: Inferred from direct assay
26040712 GOA
located in multivesicular body membrane IDA
IDA: Inferred from direct assay
16554368 GOA
located in nuclear envelope IDA
IDA: Inferred from direct assay
26040712 GOA
part of nuclear pore IDA
IDA: Inferred from direct assay
26040713 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
24878737 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHMP2A Protein Structure

Snf7

Snf7: Snf7 (17 - 185)

  • 0
  • 100
  • 200
  • 222 a.a.
Protein Preferred Names Protein Names

charged multivesicular body protein 2a

VPS2 homolog A

CHMP2A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
CHMP2A O43633 VPS4A Homo sapiens Q9UN37
Y2H
16730941
Intra
CHMP2A O43633 CHMP3 Homo sapiens Q9Y3E7
Y2H
16730941
Intra
CHMP2A O43633 CHMP3 Homo sapiens Q9Y3E7
SPR
23051622
Intra
CHMP2A O43633 MITD1 Homo sapiens Q8WV92 16730941
Intra
CHMP2A O43633 MITD1 Homo sapiens Q8WV92
Y2H
16730941
Intra
CHMP2A O43633 MITD1 Homo sapiens Q8WV92 32296183
Intra
CHMP2A O43633 MITD1 Homo sapiens Q8WV92 32296183
Intra
CHMP2A O43633 MITD1 Homo sapiens Q8WV92 16730941
Intra
CHMP2A O43633 MITD1 Homo sapiens Q8WV92 32296183
Intra
CHMP2A O43633 STAMBP Homo sapiens O95630
Y2H
16730941
Intra
CHMP2A O43633 HTT Homo sapiens P42858 32814053
Intra
CHMP2A O43633 HTT Homo sapiens P42858 32814053
Intra
CHMP2A O43633 HTT Homo sapiens P42858 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Breast Adenocarcinoma

Mammary Adenocarcinoma

Adenocarcinoma Of Breast

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7

Ftd3

Frontotemporal Dementia, Chromosome 3-Linked

Amyotrophic Lateral Sclerosis, Chmp2b-Related

Chromosome 3-Linked Frontotemporal Dementia

FTDALS7

Chmp2b-Related Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 17, Formerly

Als17, Formerly

Amyotrophic Lateral Sclerosis Type 17

Dtm1

Ftd-3

Ftd-Chmp2b

Als17

Amyotrophic Lateral Sclerosis 17

Sclerosis, Lateral, Amyotrophic, Type 17

Dementia, Frontotemporal, Chromosome 3-Linked

Hypertrichosis Universalis Congenita, Ambras Type

Ambras Syndrome

Hypertrichosis, Congenital Generalized

HTC1

HTC2

Chromosome Xq27.1 Interchromosomal Insertion Syndrome

Cgh

Hcg

Ambras Type Hypertrichosis Universalis Congenita

X-Linked Congenital Generalized Hypertrichosis

Congenital Generalized Hypertrichosis, Macias-Flores Type

Macias Flores-Garcia Cruz-Rivera Syndrome

Htc 1

Hypertrichosis Universalis Congenita Ambras Type

Hypertrichosis Congenital Generalized X-Linked

Macias-Flores Garcia-Cruz Rivera Syndrome

Congenital Generalized Hypertrichosis, Ambras Type

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CHMP2A MGD MGI:1916203
Canis familiaris CHMP2A VGNC VGNC:39222
Felis catus CHMP2A VGNC VGNC:60862
Rattus norvegicus CHMP2A RGD RGD:1305050
Bos taurus CHMP2A VGNC VGNC:27300
Macaca mulatta CHMP2A VGNC VGNC:71141