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VPS50 (VPS50, EARP/GARPII complex subunit)

Identity

Alias_namesCCDC132
coiled-coil domain containing 132
Alias_symbol (synonym)KIAA1861
FLJ20097
DKFZp313I2429
VPS54L
Other alias
HGNC (Hugo) VPS50
LocusID (NCBI) 55610
Atlas_Id 77794
Location 7q21.2  [Link to chromosome band 7q21]
Location_base_pair Starts at 93232340 and ends at 93361123 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CDH1 (16q22.1) / VPS50 (7q21.3)PRKAG2 (7q36.1) / VPS50 (7q21.3)VPS50 (7q21.3) / CDH1 (16q22.1)
VPS50 (7q21.3) / GLS (2q32.2)VPS50 (7q21.3) / MATR3 (5q31.2)VPS50 (7q21.3) / PPP6R3 (11q13.2)

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)VPS50   25956
Cards
Entrez_Gene (NCBI)VPS50  55610  VPS50, EARP/GARPII complex subunit
AliasesCCDC132; VPS54L
GeneCards (Weizmann)VPS50
Ensembl hg19 (Hinxton)ENSG00000004766 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000004766 [Gene_View]  chr7:93232340-93361123 [Contig_View]  VPS50 [Vega]
ICGC DataPortalENSG00000004766
TCGA cBioPortalVPS50
AceView (NCBI)VPS50
Genatlas (Paris)VPS50
WikiGenes55610
SOURCE (Princeton)VPS50
Genetics Home Reference (NIH)VPS50
Genomic and cartography
GoldenPath hg38 (UCSC)VPS50  -     chr7:93232340-93361123 +  7q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VPS50  -     7q21.2   [Description]    (hg19-Feb_2009)
EnsemblVPS50 - 7q21.2 [CytoView hg19]  VPS50 - 7q21.2 [CytoView hg38]
Mapping of homologs : NCBIVPS50 [Mapview hg19]  VPS50 [Mapview hg38]
OMIM616465   
Gene and transcription
Genbank (Entrez)AA724937 AB058764 AB100163 AK000104 AK027234
RefSeq transcript (Entrez)NM_001257998 NM_017667 NM_024553
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)VPS50
Cluster EST : UnigeneHs.202424 [ NCBI ]
CGAP (NCI)Hs.202424
Alternative Splicing GalleryENSG00000004766
Gene ExpressionVPS50 [ NCBI-GEO ]   VPS50 [ EBI - ARRAY_EXPRESS ]   VPS50 [ SEEK ]   VPS50 [ MEM ]
Gene Expression Viewer (FireBrowse)VPS50 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55610
GTEX Portal (Tissue expression)VPS50
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96JG6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96JG6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96JG6
Splice isoforms : SwissVarQ96JG6
PhosPhoSitePlusQ96JG6
Domains : Interpro (EBI)DUF2451_C    VPS54_N   
Domain families : Pfam (Sanger)DUF2451 (PF10474)    Vps54_N (PF10475)   
Domain families : Pfam (NCBI)pfam10474    pfam10475   
Conserved Domain (NCBI)VPS50
DMDM Disease mutations55610
Blocks (Seattle)VPS50
SuperfamilyQ96JG6
Human Protein AtlasENSG00000004766
Peptide AtlasQ96JG6
IPIIPI00553067   IPI00103148   IPI01014743   IPI00925392   IPI01015172   IPI00418185   IPI00924827   IPI00925264   IPI00925633   
Protein Interaction databases
DIP (DOE-UCLA)Q96JG6
IntAct (EBI)Q96JG6
FunCoupENSG00000004766
BioGRIDVPS50
STRING (EMBL)VPS50
ZODIACVPS50
Ontologies - Pathways
QuickGOQ96JG6
Ontology : AmiGOSNARE binding  protein transport  membrane  endocytic recycling  endocytic recycling  retrograde transport, endosome to Golgi  recycling endosome  extracellular exosome  EARP complex  
Ontology : EGO-EBISNARE binding  protein transport  membrane  endocytic recycling  endocytic recycling  retrograde transport, endosome to Golgi  recycling endosome  extracellular exosome  EARP complex  
NDEx NetworkVPS50
Atlas of Cancer Signalling NetworkVPS50
Wikipedia pathwaysVPS50
Orthology - Evolution
OrthoDB55610
GeneTree (enSembl)ENSG00000004766
Phylogenetic Trees/Animal Genes : TreeFamVPS50
HOVERGENQ96JG6
HOGENOMQ96JG6
Homologs : HomoloGeneVPS50
Homology/Alignments : Family Browser (UCSC)VPS50
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVPS50 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VPS50
dbVarVPS50
ClinVarVPS50
1000_GenomesVPS50 
Exome Variant ServerVPS50
ExAC (Exome Aggregation Consortium)VPS50 (select the gene name)
Genetic variants : HAPMAP55610
Genomic Variants (DGV)VPS50 [DGVbeta]
DECIPHERVPS50 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVPS50 
Mutations
ICGC Data PortalVPS50 
TCGA Data PortalVPS50 
Broad Tumor PortalVPS50
OASIS PortalVPS50 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDVPS50
BioMutasearch VPS50
DgiDB (Drug Gene Interaction Database)VPS50
DoCM (Curated mutations)VPS50 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VPS50 (select a term)
intoGenVPS50
Cancer3DVPS50(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616465   
Orphanet
MedgenVPS50
Genetic Testing Registry VPS50
NextProtQ96JG6 [Medical]
TSGene55610
GENETestsVPS50
Huge Navigator VPS50 [HugePedia]
snp3D : Map Gene to Disease55610
BioCentury BCIQVPS50
ClinGenVPS50
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55610
Chemical/Pharm GKB GenePA162381332
Clinical trialVPS50
Miscellaneous
canSAR (ICR)VPS50 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVPS50
EVEXVPS50
GoPubMedVPS50
iHOPVPS50
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 12:01:15 CEST 2017

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