Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

VPS52 (VPS52, GARP complex subunit)

Identity

Alias_namesSACM2L
SAC2 suppressor of actin mutations 2-like (yeast)
vacuolar protein sorting 52 (yeast)
vacuolar protein sorting 52 homolog (S. cerevisiae)
Alias_symbol (synonym)ARE1
Other aliasSAC2
dJ1033B10.5
HGNC (Hugo) VPS52
LocusID (NCBI) 6293
Atlas_Id 75640
Location 6p21.32  [Link to chromosome band 6p21]
Location_base_pair Starts at 33250272 and ends at 33271965 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CAPZA1 (1p13.2) / VPS52 (6p21.32)VPS52 (6p21.32) / FDPS (1q22)VPS52 (6p21.32) / INSIG2 (2q14.2)
VPS52 (6p21.32) / MSH5 (6p21.33)WDR12 (2q33.2) / VPS52 (6p21.32)

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)VPS52   10518
Cards
Entrez_Gene (NCBI)VPS52  6293  VPS52, GARP complex subunit
AliasesARE1; SAC2; SACM2L; dJ1033B10.5
GeneCards (Weizmann)VPS52
Ensembl hg19 (Hinxton)ENSG00000223501 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000223501 [Gene_View]  chr6:33250272-33271965 [Contig_View]  VPS52 [Vega]
ICGC DataPortalENSG00000223501
TCGA cBioPortalVPS52
AceView (NCBI)VPS52
Genatlas (Paris)VPS52
WikiGenes6293
SOURCE (Princeton)VPS52
Genetics Home Reference (NIH)VPS52
Genomic and cartography
GoldenPath hg38 (UCSC)VPS52  -     chr6:33250272-33271965 -  6p21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VPS52  -     6p21.32   [Description]    (hg19-Feb_2009)
EnsemblVPS52 - 6p21.32 [CytoView hg19]  VPS52 - 6p21.32 [CytoView hg38]
Mapping of homologs : NCBIVPS52 [Mapview hg19]  VPS52 [Mapview hg38]
OMIM603443   
Gene and transcription
Genbank (Entrez)AJ006026 AK001725 AK093057 AK222867 AK297935
RefSeq transcript (Entrez)NM_001289174 NM_001289175 NM_001289176 NM_022553
RefSeq genomic (Entrez)NC_000006 NC_018917 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)VPS52
Cluster EST : UnigeneHs.480356 [ NCBI ]
CGAP (NCI)Hs.480356
Alternative Splicing GalleryENSG00000223501
Gene ExpressionVPS52 [ NCBI-GEO ]   VPS52 [ EBI - ARRAY_EXPRESS ]   VPS52 [ SEEK ]   VPS52 [ MEM ]
Gene Expression Viewer (FireBrowse)VPS52 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6293
GTEX Portal (Tissue expression)VPS52
Human Protein AtlasENSG00000223501-VPS52 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N1B4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N1B4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N1B4
Splice isoforms : SwissVarQ8N1B4
PhosPhoSitePlusQ8N1B4
Domains : Interpro (EBI)Vps52   
Domain families : Pfam (Sanger)Vps52 (PF04129)   
Domain families : Pfam (NCBI)pfam04129   
Conserved Domain (NCBI)VPS52
DMDM Disease mutations6293
Blocks (Seattle)VPS52
SuperfamilyQ8N1B4
Human Protein Atlas [tissue]ENSG00000223501-VPS52 [tissue]
Peptide AtlasQ8N1B4
HPRD09142
IPIIPI00166132   IPI00893368   IPI01013254   IPI00910235   IPI00976024   
Protein Interaction databases
DIP (DOE-UCLA)Q8N1B4
IntAct (EBI)Q8N1B4
FunCoupENSG00000223501
BioGRIDVPS52
STRING (EMBL)VPS52
ZODIACVPS52
Ontologies - Pathways
QuickGOQ8N1B4
Ontology : AmiGOGARP complex  protein binding  Golgi apparatus  cytosol  Golgi to vacuole transport  lysosomal transport  endosome membrane  ectodermal cell differentiation  protein transport  membrane  Rab GTPase binding  syntaxin binding  endocytic recycling  trans-Golgi network membrane  retrograde transport, endosome to Golgi  perinuclear region of cytoplasm  embryonic ectodermal digestive tract development  recycling endosome  EARP complex  
Ontology : EGO-EBIGARP complex  protein binding  Golgi apparatus  cytosol  Golgi to vacuole transport  lysosomal transport  endosome membrane  ectodermal cell differentiation  protein transport  membrane  Rab GTPase binding  syntaxin binding  endocytic recycling  trans-Golgi network membrane  retrograde transport, endosome to Golgi  perinuclear region of cytoplasm  embryonic ectodermal digestive tract development  recycling endosome  EARP complex  
NDEx NetworkVPS52
Atlas of Cancer Signalling NetworkVPS52
Wikipedia pathwaysVPS52
Orthology - Evolution
OrthoDB6293
GeneTree (enSembl)ENSG00000223501
Phylogenetic Trees/Animal Genes : TreeFamVPS52
HOVERGENQ8N1B4
HOGENOMQ8N1B4
Homologs : HomoloGeneVPS52
Homology/Alignments : Family Browser (UCSC)VPS52
Gene fusions - Rearrangements
Tumor Fusion PortalVPS52
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVPS52 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VPS52
dbVarVPS52
ClinVarVPS52
1000_GenomesVPS52 
Exome Variant ServerVPS52
ExAC (Exome Aggregation Consortium)ENSG00000223501
GNOMAD BrowserENSG00000223501
Genetic variants : HAPMAP6293
Genomic Variants (DGV)VPS52 [DGVbeta]
DECIPHERVPS52 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVPS52 
Mutations
ICGC Data PortalVPS52 
TCGA Data PortalVPS52 
Broad Tumor PortalVPS52
OASIS PortalVPS52 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVPS52  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVPS52
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 VPS52
DgiDB (Drug Gene Interaction Database)VPS52
DoCM (Curated mutations)VPS52 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VPS52 (select a term)
intoGenVPS52
Cancer3DVPS52(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603443   
Orphanet
DisGeNETVPS52
MedgenVPS52
Genetic Testing Registry VPS52
NextProtQ8N1B4 [Medical]
TSGene6293
GENETestsVPS52
Target ValidationVPS52
Huge Navigator VPS52 [HugePedia]
snp3D : Map Gene to Disease6293
BioCentury BCIQVPS52
ClinGenVPS52
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6293
Chemical/Pharm GKB GenePA34926
Clinical trialVPS52
Miscellaneous
canSAR (ICR)VPS52 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVPS52
EVEXVPS52
GoPubMedVPS52
iHOPVPS52
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Dec 27 19:25:15 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.