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

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

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