Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CHMP4A (charged multivesicular body protein 4A)

Identity

Alias_namesC14orf123
chromosome 14 open reading frame 123
chromatin modifying protein 4A
Alias_symbol (synonym)HSPC134
VPS32A
Other aliasCHMP4
CHMP4B
SHAX2
SNF7
SNF7-1
VPS32-1
HGNC (Hugo) CHMP4A
LocusID (NCBI) 29082
Atlas_Id 61805
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 24209581 and ends at 24213830 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHMP4A (14q12) / TM9SF1 (14q12)MDP1 (14q12) / CHMP4A (14q12)

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)CHMP4A   20274
Cards
Entrez_Gene (NCBI)CHMP4A  29082  charged multivesicular body protein 4A
AliasesC14orf123; CHMP4; CHMP4B; HSPC134; 
SHAX2; SNF7; SNF7-1; VPS32-1; VPS32A
GeneCards (Weizmann)CHMP4A
Ensembl hg19 (Hinxton)ENSG00000254505 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000254505 [Gene_View]  chr14:24209581-24213830 [Contig_View]  CHMP4A [Vega]
ICGC DataPortalENSG00000254505
TCGA cBioPortalCHMP4A
AceView (NCBI)CHMP4A
Genatlas (Paris)CHMP4A
WikiGenes29082
SOURCE (Princeton)CHMP4A
Genetics Home Reference (NIH)CHMP4A
Genomic and cartography
GoldenPath hg38 (UCSC)CHMP4A  -     chr14:24209581-24213830 -  14q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHMP4A  -     14q12   [Description]    (hg19-Feb_2009)
EnsemblCHMP4A - 14q12 [CytoView hg19]  CHMP4A - 14q12 [CytoView hg38]
Mapping of homologs : NCBICHMP4A [Mapview hg19]  CHMP4A [Mapview hg38]
OMIM610051   
Gene and transcription
Genbank (Entrez)AB100262 AF161483 AF212243 AW732226 AY329084
RefSeq transcript (Entrez)NM_014169
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHMP4A
Cluster EST : UnigeneHs.279761 [ NCBI ]
CGAP (NCI)Hs.279761
Alternative Splicing GalleryENSG00000254505
Gene ExpressionCHMP4A [ NCBI-GEO ]   CHMP4A [ EBI - ARRAY_EXPRESS ]   CHMP4A [ SEEK ]   CHMP4A [ MEM ]
Gene Expression Viewer (FireBrowse)CHMP4A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29082
GTEX Portal (Tissue expression)CHMP4A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BY43   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BY43  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BY43
Splice isoforms : SwissVarQ9BY43
PhosPhoSitePlusQ9BY43
Domains : Interpro (EBI)Snf7_fam   
Domain families : Pfam (Sanger)Snf7 (PF03357)   
Domain families : Pfam (NCBI)pfam03357   
Conserved Domain (NCBI)CHMP4A
DMDM Disease mutations29082
Blocks (Seattle)CHMP4A
PDB (SRS)3C3O   
PDB (PDBSum)3C3O   
PDB (IMB)3C3O   
PDB (RSDB)3C3O   
Structural Biology KnowledgeBase3C3O   
SCOP (Structural Classification of Proteins)3C3O   
CATH (Classification of proteins structures)3C3O   
SuperfamilyQ9BY43
Human Protein AtlasENSG00000254505
Peptide AtlasQ9BY43
HPRD16597
IPIIPI01021175   IPI01021055   IPI01020717   IPI00794397   IPI00978991   IPI00975824   
Protein Interaction databases
DIP (DOE-UCLA)Q9BY43
IntAct (EBI)Q9BY43
FunCoupENSG00000254505
BioGRIDCHMP4A
STRING (EMBL)CHMP4A
ZODIACCHMP4A
Ontologies - Pathways
QuickGOQ9BY43
Ontology : AmiGOESCRT III complex  ESCRT III complex  cell separation after cytokinesis  protein binding  nucleus  cytoplasm  endosome  cytosol  plasma membrane  posttranslational protein targeting to endoplasmic reticulum membrane  membrane budding  membrane budding  nucleus organization  vacuolar transport  mitotic metaphase plate congression  lipid binding  cytoplasmic side of plasma membrane  membrane invagination  endosomal transport  macroautophagy  viral life cycle  membrane coat  midbody  cytoplasmic vesicle membrane  late endosome membrane  multivesicular body assembly  viral budding via host ESCRT complex  viral budding via host ESCRT complex  viral budding via host ESCRT complex  identical protein binding  protein homodimerization activity  ATPase binding  protein polymerization  protein homooligomerization  extracellular exosome  plasma membrane tubulation  plasma membrane tubulation  negative regulation of neuron death  negative regulation of autophagosome assembly  
Ontology : EGO-EBIESCRT III complex  ESCRT III complex  cell separation after cytokinesis  protein binding  nucleus  cytoplasm  endosome  cytosol  plasma membrane  posttranslational protein targeting to endoplasmic reticulum membrane  membrane budding  membrane budding  nucleus organization  vacuolar transport  mitotic metaphase plate congression  lipid binding  cytoplasmic side of plasma membrane  membrane invagination  endosomal transport  macroautophagy  viral life cycle  membrane coat  midbody  cytoplasmic vesicle membrane  late endosome membrane  multivesicular body assembly  viral budding via host ESCRT complex  viral budding via host ESCRT complex  viral budding via host ESCRT complex  identical protein binding  protein homodimerization activity  ATPase binding  protein polymerization  protein homooligomerization  extracellular exosome  plasma membrane tubulation  plasma membrane tubulation  negative regulation of neuron death  negative regulation of autophagosome assembly  
Pathways : KEGGEndocytosis   
NDEx NetworkCHMP4A
Atlas of Cancer Signalling NetworkCHMP4A
Wikipedia pathwaysCHMP4A
Orthology - Evolution
OrthoDB29082
GeneTree (enSembl)ENSG00000254505
Phylogenetic Trees/Animal Genes : TreeFamCHMP4A
HOVERGENQ9BY43
HOGENOMQ9BY43
Homologs : HomoloGeneCHMP4A
Homology/Alignments : Family Browser (UCSC)CHMP4A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHMP4A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHMP4A
dbVarCHMP4A
ClinVarCHMP4A
1000_GenomesCHMP4A 
Exome Variant ServerCHMP4A
ExAC (Exome Aggregation Consortium)CHMP4A (select the gene name)
Genetic variants : HAPMAP29082
Genomic Variants (DGV)CHMP4A [DGVbeta]
DECIPHERCHMP4A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHMP4A 
Mutations
ICGC Data PortalCHMP4A 
TCGA Data PortalCHMP4A 
Broad Tumor PortalCHMP4A
OASIS PortalCHMP4A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHMP4A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHMP4A
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 CHMP4A
DgiDB (Drug Gene Interaction Database)CHMP4A
DoCM (Curated mutations)CHMP4A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHMP4A (select a term)
intoGenCHMP4A
Cancer3DCHMP4A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610051   
Orphanet
MedgenCHMP4A
Genetic Testing Registry CHMP4A
NextProtQ9BY43 [Medical]
TSGene29082
GENETestsCHMP4A
Target ValidationCHMP4A
Huge Navigator CHMP4A [HugePedia]
snp3D : Map Gene to Disease29082
BioCentury BCIQCHMP4A
ClinGenCHMP4A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29082
Chemical/Pharm GKB GenePA134888743
Clinical trialCHMP4A
Miscellaneous
canSAR (ICR)CHMP4A (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHMP4A
EVEXCHMP4A
GoPubMedCHMP4A
iHOPCHMP4A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Aug 1 16:12:18 CEST 2017

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