Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CHMP3 (charged multivesicular body protein 3)

Identity

Alias_namesVPS24
vacuolar protein sorting 24 (yeast)
vacuolar protein sorting 24 homolog (S. cerevisiae)
Alias_symbol (synonym)NEDF
CGI-149
Other alias
HGNC (Hugo) CHMP3
LocusID (NCBI) 51652
Atlas_Id 52434
Location 2p11.2  [Link to chromosome band 2p11]
Location_base_pair Starts at 86730553 and ends at 86790620 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CHMP3 (2p11.2) / CHMP3 (2p11.2)CHMP3 (2p11.2) / CYP27A1 (2q35)PEX13 (2p16.1) / CHMP3 (2p11.2)
PIGF (2p21) / CHMP3 (2p11.2)

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)CHMP3   29865
Cards
Entrez_Gene (NCBI)CHMP3  51652  charged multivesicular body protein 3
AliasesCGI-149; NEDF; VPS24
GeneCards (Weizmann)CHMP3
Ensembl hg19 (Hinxton)ENSG00000115561 [Gene_View]  chr2:86730553-86790620 [Contig_View]  CHMP3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000115561 [Gene_View]  chr2:86730553-86790620 [Contig_View]  CHMP3 [Vega]
ICGC DataPortalENSG00000115561
TCGA cBioPortalCHMP3
AceView (NCBI)CHMP3
Genatlas (Paris)CHMP3
WikiGenes51652
SOURCE (Princeton)CHMP3
Genetics Home Reference (NIH)CHMP3
Genomic and cartography
GoldenPath hg19 (UCSC)CHMP3  -     chr2:86730553-86790620 -  2p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CHMP3  -     2p11.2   [Description]    (hg38-Dec_2013)
EnsemblCHMP3 - 2p11.2 [CytoView hg19]  CHMP3 - 2p11.2 [CytoView hg38]
Mapping of homologs : NCBICHMP3 [Mapview hg19]  CHMP3 [Mapview hg38]
OMIM610052   
Gene and transcription
Genbank (Entrez)AF151907 AF219226 AK025046 AK025260 AK095433
RefSeq transcript (Entrez)NM_001005753 NM_001193517 NM_016079
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)CHMP3
Cluster EST : UnigeneHs.591582 [ NCBI ]
CGAP (NCI)Hs.591582
Alternative Splicing GalleryENSG00000115561
Gene ExpressionCHMP3 [ NCBI-GEO ]   CHMP3 [ EBI - ARRAY_EXPRESS ]   CHMP3 [ SEEK ]   CHMP3 [ MEM ]
Gene Expression Viewer (FireBrowse)CHMP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51652
GTEX Portal (Tissue expression)CHMP3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y3E7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y3E7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y3E7
Splice isoforms : SwissVarQ9Y3E7
PhosPhoSitePlusQ9Y3E7
Domains : Interpro (EBI)Snf7_fam   
Domain families : Pfam (Sanger)Snf7 (PF03357)   
Domain families : Pfam (NCBI)pfam03357   
Conserved Domain (NCBI)CHMP3
DMDM Disease mutations51652
Blocks (Seattle)CHMP3
PDB (SRS)2GD5    2XZE    3FRT    3FRV   
PDB (PDBSum)2GD5    2XZE    3FRT    3FRV   
PDB (IMB)2GD5    2XZE    3FRT    3FRV   
PDB (RSDB)2GD5    2XZE    3FRT    3FRV   
Structural Biology KnowledgeBase2GD5    2XZE    3FRT    3FRV   
SCOP (Structural Classification of Proteins)2GD5    2XZE    3FRT    3FRV   
CATH (Classification of proteins structures)2GD5    2XZE    3FRT    3FRV   
SuperfamilyQ9Y3E7
Human Protein AtlasENSG00000115561
Peptide AtlasQ9Y3E7
HPRD15650
IPIIPI00100673   IPI00979305   IPI00981241   IPI00478935   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y3E7
IntAct (EBI)Q9Y3E7
FunCoupENSG00000115561
BioGRIDCHMP3
STRING (EMBL)CHMP3
ZODIACCHMP3
Ontologies - Pathways
QuickGOQ9Y3E7
Ontology : AmiGOESCRT III complex  ESCRT III complex  cell separation after cytokinesis  protein binding  cytosol  plasma membrane  autophagy  apoptotic process  nucleus organization  vacuolar transport  mitotic metaphase plate congression  regulation of centrosome duplication  protein transport  cytoplasmic, membrane-bounded vesicle  endosomal transport  viral life cycle  phosphatidylcholine 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  protein homodimerization activity  regulation of viral process  protein polymerization  protein heterooligomerization  extracellular exosome  multivesicular body sorting pathway  autophagosome maturation  regulation of mitotic spindle assembly  negative regulation of viral release from host cell  positive regulation of viral release from host cell  positive regulation of viral release from host cell  regulation of exosomal secretion  ubiquitin-specific protease binding  
Ontology : EGO-EBIESCRT III complex  ESCRT III complex  cell separation after cytokinesis  protein binding  cytosol  plasma membrane  autophagy  apoptotic process  nucleus organization  vacuolar transport  mitotic metaphase plate congression  regulation of centrosome duplication  protein transport  cytoplasmic, membrane-bounded vesicle  endosomal transport  viral life cycle  phosphatidylcholine 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  protein homodimerization activity  regulation of viral process  protein polymerization  protein heterooligomerization  extracellular exosome  multivesicular body sorting pathway  autophagosome maturation  regulation of mitotic spindle assembly  negative regulation of viral release from host cell  positive regulation of viral release from host cell  positive regulation of viral release from host cell  regulation of exosomal secretion  ubiquitin-specific protease binding  
Pathways : KEGGEndocytosis   
NDEx NetworkCHMP3
Atlas of Cancer Signalling NetworkCHMP3
Wikipedia pathwaysCHMP3
Orthology - Evolution
OrthoDB51652
GeneTree (enSembl)ENSG00000115561
Phylogenetic Trees/Animal Genes : TreeFamCHMP3
HOVERGENQ9Y3E7
HOGENOMQ9Y3E7
Homologs : HomoloGeneCHMP3
Homology/Alignments : Family Browser (UCSC)CHMP3
Gene fusions - Rearrangements
Fusion : MitelmanPEX13/CHMP3 [2p16.1/2p11.2]  [t(2;2)(p11;p16)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHMP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHMP3
dbVarCHMP3
ClinVarCHMP3
1000_GenomesCHMP3 
Exome Variant ServerCHMP3
ExAC (Exome Aggregation Consortium)CHMP3 (select the gene name)
Genetic variants : HAPMAP51652
Genomic Variants (DGV)CHMP3 [DGVbeta]
DECIPHER (Syndromes)2:86730553-86790620  ENSG00000115561
CONAN: Copy Number AnalysisCHMP3 
Mutations
ICGC Data PortalCHMP3 
TCGA Data PortalCHMP3 
Broad Tumor PortalCHMP3
OASIS PortalCHMP3 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCHMP3
BioMutasearch CHMP3
DgiDB (Drug Gene Interaction Database)CHMP3
DoCM (Curated mutations)CHMP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHMP3 (select a term)
intoGenCHMP3
Cancer3DCHMP3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610052   
Orphanet
MedgenCHMP3
Genetic Testing Registry CHMP3
NextProtQ9Y3E7 [Medical]
TSGene51652
GENETestsCHMP3
Huge Navigator CHMP3 [HugePedia]
snp3D : Map Gene to Disease51652
BioCentury BCIQCHMP3
ClinGenCHMP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51652
Chemical/Pharm GKB GenePA134920495
Clinical trialCHMP3
Miscellaneous
canSAR (ICR)CHMP3 (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHMP3
EVEXCHMP3
GoPubMedCHMP3
iHOPCHMP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:56:28 CEST 2017

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