Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CHMP2B (charged multivesicular body protein 2B)

Identity

Alias_nameschromatin modifying protein 2B
Alias_symbol (synonym)DKFZP564O123
CHMP2.5
VPS2B
Other aliasALS17
DMT1
VPS2-2
HGNC (Hugo) CHMP2B
LocusID (NCBI) 25978
Atlas_Id 55963
Location 3p11.2  [Link to chromosome band 3p11]
Location_base_pair Starts at 87227263 and ends at 87255548 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHMP2B (3p11.2) / CHMP2B (3p11.2)CHMP2B (3p11.2) / LOC100124692 ()CHMP2B (3p11.2) / MYH9 (22q12.3)

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)CHMP2B   24537
Cards
Entrez_Gene (NCBI)CHMP2B  25978  charged multivesicular body protein 2B
AliasesALS17; CHMP2.5; DMT1; VPS2-2; 
VPS2B
GeneCards (Weizmann)CHMP2B
Ensembl hg19 (Hinxton)ENSG00000083937 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000083937 [Gene_View]  chr3:87227263-87255548 [Contig_View]  CHMP2B [Vega]
ICGC DataPortalENSG00000083937
TCGA cBioPortalCHMP2B
AceView (NCBI)CHMP2B
Genatlas (Paris)CHMP2B
WikiGenes25978
SOURCE (Princeton)CHMP2B
Genetics Home Reference (NIH)CHMP2B
Genomic and cartography
GoldenPath hg38 (UCSC)CHMP2B  -     chr3:87227263-87255548 +  3p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHMP2B  -     3p11.2   [Description]    (hg19-Feb_2009)
EnsemblCHMP2B - 3p11.2 [CytoView hg19]  CHMP2B - 3p11.2 [CytoView hg38]
Mapping of homologs : NCBICHMP2B [Mapview hg19]  CHMP2B [Mapview hg38]
OMIM600795   609512   614696   
Gene and transcription
Genbank (Entrez)AF151842 AK002165 AK002180 AK222654 AK296072
RefSeq transcript (Entrez)NM_001244644 NM_014043
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHMP2B
Cluster EST : UnigeneHs.476930 [ NCBI ]
CGAP (NCI)Hs.476930
Alternative Splicing GalleryENSG00000083937
Gene ExpressionCHMP2B [ NCBI-GEO ]   CHMP2B [ EBI - ARRAY_EXPRESS ]   CHMP2B [ SEEK ]   CHMP2B [ MEM ]
Gene Expression Viewer (FireBrowse)CHMP2B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25978
GTEX Portal (Tissue expression)CHMP2B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UQN3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UQN3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UQN3
Splice isoforms : SwissVarQ9UQN3
PhosPhoSitePlusQ9UQN3
Domains : Interpro (EBI)Snf7_fam   
Domain families : Pfam (Sanger)Snf7 (PF03357)   
Domain families : Pfam (NCBI)pfam03357   
Conserved Domain (NCBI)CHMP2B
DMDM Disease mutations25978
Blocks (Seattle)CHMP2B
PDB (SRS)2JQK   
PDB (PDBSum)2JQK   
PDB (IMB)2JQK   
PDB (RSDB)2JQK   
Structural Biology KnowledgeBase2JQK   
SCOP (Structural Classification of Proteins)2JQK   
CATH (Classification of proteins structures)2JQK   
SuperfamilyQ9UQN3
Human Protein AtlasENSG00000083937
Peptide AtlasQ9UQN3
HPRD13174
IPIIPI00550181   IPI00793098   IPI00947040   
Protein Interaction databases
DIP (DOE-UCLA)Q9UQN3
IntAct (EBI)Q9UQN3
FunCoupENSG00000083937
BioGRIDCHMP2B
STRING (EMBL)CHMP2B
ZODIACCHMP2B
Ontologies - Pathways
QuickGOQ9UQN3
Ontology : AmiGOESCRT III complex  ESCRT III complex  cell separation after cytokinesis  protein binding  intracellular  cytoplasm  lysosome  endosome  late endosome  cytosol  cytosol  plasma membrane  autophagy  nucleus organization  endosome organization  mitotic metaphase plate congression  regulation of centrosome duplication  protein transport  endosomal transport  macroautophagy  viral life cycle  protein domain specific binding  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  cadherin binding  cognition  multivesicular body-lysosome fusion  neuron cellular homeostasis  extracellular exosome  regulation of mitotic spindle assembly  positive regulation of viral release from host cell  positive regulation of viral release from host cell  ESCRT III complex disassembly  
Ontology : EGO-EBIESCRT III complex  ESCRT III complex  cell separation after cytokinesis  protein binding  intracellular  cytoplasm  lysosome  endosome  late endosome  cytosol  cytosol  plasma membrane  autophagy  nucleus organization  endosome organization  mitotic metaphase plate congression  regulation of centrosome duplication  protein transport  endosomal transport  macroautophagy  viral life cycle  protein domain specific binding  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  cadherin binding  cognition  multivesicular body-lysosome fusion  neuron cellular homeostasis  extracellular exosome  regulation of mitotic spindle assembly  positive regulation of viral release from host cell  positive regulation of viral release from host cell  ESCRT III complex disassembly  
Pathways : KEGGEndocytosis   
NDEx NetworkCHMP2B
Atlas of Cancer Signalling NetworkCHMP2B
Wikipedia pathwaysCHMP2B
Orthology - Evolution
OrthoDB25978
GeneTree (enSembl)ENSG00000083937
Phylogenetic Trees/Animal Genes : TreeFamCHMP2B
HOVERGENQ9UQN3
HOGENOMQ9UQN3
Homologs : HomoloGeneCHMP2B
Homology/Alignments : Family Browser (UCSC)CHMP2B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHMP2B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHMP2B
dbVarCHMP2B
ClinVarCHMP2B
1000_GenomesCHMP2B 
Exome Variant ServerCHMP2B
ExAC (Exome Aggregation Consortium)CHMP2B (select the gene name)
Genetic variants : HAPMAP25978
Genomic Variants (DGV)CHMP2B [DGVbeta]
DECIPHERCHMP2B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHMP2B 
Mutations
ICGC Data PortalCHMP2B 
TCGA Data PortalCHMP2B 
Broad Tumor PortalCHMP2B
OASIS PortalCHMP2B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHMP2B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHMP2B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHMP2B
DgiDB (Drug Gene Interaction Database)CHMP2B
DoCM (Curated mutations)CHMP2B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHMP2B (select a term)
intoGenCHMP2B
Cancer3DCHMP2B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600795    609512    614696   
Orphanet106    20340    14642    14643   
MedgenCHMP2B
Genetic Testing Registry CHMP2B
NextProtQ9UQN3 [Medical]
TSGene25978
GENETestsCHMP2B
Huge Navigator CHMP2B [HugePedia]
snp3D : Map Gene to Disease25978
BioCentury BCIQCHMP2B
ClinGenCHMP2B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25978
Chemical/Pharm GKB GenePA142672112
Clinical trialCHMP2B
Miscellaneous
canSAR (ICR)CHMP2B (select the gene name)
Probes
Litterature
PubMed77 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHMP2B
EVEXCHMP2B
GoPubMedCHMP2B
iHOPCHMP2B
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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