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CHMP2A (charged multivesicular body protein 2A)

Identity

Alias_nameschromatin modifying protein 2A
Alias_symbol (synonym)BC-2
CHMP2
VPS2
VPS2A
Other aliasBC2
HGNC (Hugo) CHMP2A
LocusID (NCBI) 27243
Atlas_Id 760
Location 19q13.43  [Link to chromosome band 19q13]
Location_base_pair Starts at 58551566 and ends at 58555124 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHMP2A (19q13.43) / SH3PXD2A (10q24.33)GNAS (20q13.32) / CHMP2A (19q13.43)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CHMP2A   30216
Cards
Entrez_Gene (NCBI)CHMP2A  27243  charged multivesicular body protein 2A
AliasesBC-2; BC2; CHMP2; VPS2; 
VPS2A
GeneCards (Weizmann)CHMP2A
Ensembl hg19 (Hinxton)ENSG00000130724 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130724 [Gene_View]  chr19:58551566-58555124 [Contig_View]  CHMP2A [Vega]
ICGC DataPortalENSG00000130724
TCGA cBioPortalCHMP2A
AceView (NCBI)CHMP2A
Genatlas (Paris)CHMP2A
WikiGenes27243
SOURCE (Princeton)CHMP2A
Genetics Home Reference (NIH)CHMP2A
Genomic and cartography
GoldenPath hg38 (UCSC)CHMP2A  -     chr19:58551566-58555124 -  19q13.43   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHMP2A  -     19q13.43   [Description]    (hg19-Feb_2009)
EnsemblCHMP2A - 19q13.43 [CytoView hg19]  CHMP2A - 19q13.43 [CytoView hg38]
Mapping of homologs : NCBICHMP2A [Mapview hg19]  CHMP2A [Mapview hg38]
OMIM610893   
Gene and transcription
Genbank (Entrez)AF042384 AK092868 AK311974 AY364248 BC002502
RefSeq transcript (Entrez)NM_014453 NM_198426
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHMP2A
Cluster EST : UnigeneHs.12107 [ NCBI ]
CGAP (NCI)Hs.12107
Alternative Splicing GalleryENSG00000130724
Gene ExpressionCHMP2A [ NCBI-GEO ]   CHMP2A [ EBI - ARRAY_EXPRESS ]   CHMP2A [ SEEK ]   CHMP2A [ MEM ]
Gene Expression Viewer (FireBrowse)CHMP2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27243
GTEX Portal (Tissue expression)CHMP2A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43633   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43633  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43633
Splice isoforms : SwissVarO43633
PhosPhoSitePlusO43633
Domains : Interpro (EBI)Snf7_fam   
Domain families : Pfam (Sanger)Snf7 (PF03357)   
Domain families : Pfam (NCBI)pfam03357   
Conserved Domain (NCBI)CHMP2A
DMDM Disease mutations27243
Blocks (Seattle)CHMP2A
SuperfamilyO43633
Human Protein AtlasENSG00000130724
Peptide AtlasO43633
HPRD12520
IPIIPI00004416   
Protein Interaction databases
DIP (DOE-UCLA)O43633
IntAct (EBI)O43633
FunCoupENSG00000130724
BioGRIDCHMP2A
STRING (EMBL)CHMP2A
ZODIACCHMP2A
Ontologies - Pathways
QuickGOO43633
Ontology : AmiGOESCRT III complex  ESCRT III complex  cell separation after cytokinesis  protein binding  nuclear envelope  cytosol  nucleus organization  vacuolar transport  mitotic metaphase plate congression  membrane invagination  exit from mitosis  regulation of centrosome duplication  protein transport  membrane  endosomal transport  macroautophagy  viral life cycle  protein domain specific binding  membrane coat  phosphatidylcholine binding  nuclear envelope reassembly  late endosome membrane  multivesicular body assembly  viral budding via host ESCRT complex  viral budding via host ESCRT complex  viral budding via host ESCRT complex  viral budding via host ESCRT complex  establishment of protein localization  regulation of viral process  protein polymerization  protein homooligomerization  protein heterooligomerization  negative regulation of cell death  extracellular exosome  regulation of mitotic spindle assembly  positive regulation of viral release from host cell  positive regulation of viral release from host cell  positive regulation of exosomal secretion  negative regulation of centriole elongation  ESCRT III complex disassembly  
Ontology : EGO-EBIESCRT III complex  ESCRT III complex  cell separation after cytokinesis  protein binding  nuclear envelope  cytosol  nucleus organization  vacuolar transport  mitotic metaphase plate congression  membrane invagination  exit from mitosis  regulation of centrosome duplication  protein transport  membrane  endosomal transport  macroautophagy  viral life cycle  protein domain specific binding  membrane coat  phosphatidylcholine binding  nuclear envelope reassembly  late endosome membrane  multivesicular body assembly  viral budding via host ESCRT complex  viral budding via host ESCRT complex  viral budding via host ESCRT complex  viral budding via host ESCRT complex  establishment of protein localization  regulation of viral process  protein polymerization  protein homooligomerization  protein heterooligomerization  negative regulation of cell death  extracellular exosome  regulation of mitotic spindle assembly  positive regulation of viral release from host cell  positive regulation of viral release from host cell  positive regulation of exosomal secretion  negative regulation of centriole elongation  ESCRT III complex disassembly  
Pathways : KEGGEndocytosis   
NDEx NetworkCHMP2A
Atlas of Cancer Signalling NetworkCHMP2A
Wikipedia pathwaysCHMP2A
Orthology - Evolution
OrthoDB27243
GeneTree (enSembl)ENSG00000130724
Phylogenetic Trees/Animal Genes : TreeFamCHMP2A
HOVERGENO43633
HOGENOMO43633
Homologs : HomoloGeneCHMP2A
Homology/Alignments : Family Browser (UCSC)CHMP2A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHMP2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHMP2A
dbVarCHMP2A
ClinVarCHMP2A
1000_GenomesCHMP2A 
Exome Variant ServerCHMP2A
ExAC (Exome Aggregation Consortium)CHMP2A (select the gene name)
Genetic variants : HAPMAP27243
Genomic Variants (DGV)CHMP2A [DGVbeta]
DECIPHERCHMP2A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHMP2A 
Mutations
ICGC Data PortalCHMP2A 
TCGA Data PortalCHMP2A 
Broad Tumor PortalCHMP2A
OASIS PortalCHMP2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHMP2A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHMP2A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHMP2A
DgiDB (Drug Gene Interaction Database)CHMP2A
DoCM (Curated mutations)CHMP2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHMP2A (select a term)
intoGenCHMP2A
Cancer3DCHMP2A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610893   
Orphanet
MedgenCHMP2A
Genetic Testing Registry CHMP2A
NextProtO43633 [Medical]
TSGene27243
GENETestsCHMP2A
Huge Navigator CHMP2A [HugePedia]
snp3D : Map Gene to Disease27243
BioCentury BCIQCHMP2A
ClinGenCHMP2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27243
Chemical/Pharm GKB GenePA142672111
Clinical trialCHMP2A
Miscellaneous
canSAR (ICR)CHMP2A (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHMP2A
EVEXCHMP2A
GoPubMedCHMP2A
iHOPCHMP2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:10:30 CEST 2017

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