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VPS52 Gene

protein-coding   GIFtS: 50
GCID: GC06M033218

Vacuolar Protein Sorting 52 Homolog (S. Cerevisiae)

(Previous names: SAC2 suppressor of actin mutations 2-like (yeast), vacuolar...)
(Previous symbol: SACM2L)
  See related diseases
at
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Aliases
for VPS52 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Vacuolar Protein Sorting 52 Homolog (S. Cerevisiae)1 2     ARE12
SACM2L1 2 3 5     SAC22
SAC2 Suppressor Of Actin Mutations 2-Like Protein2 3     dJ1033B10.52
SAC2 Suppressor Of Actin Mutations 2-Like (Yeast)1     Vacuolar Protein Sorting-Associated Protein 52 Homolog2
Vacuolar Protein Sorting 52 (Yeast)1     

External Ids:    HGNC: 105181   Entrez Gene: 62932   Ensembl: ENSG000002235017   OMIM: 6034435   UniProtKB: Q8N1B43   

Export aliases for VPS52 gene to outside databases

Previous GC identifers: GC06M033210 GC06M033264 GC06M033326 GC06M032960


Summaries
for VPS52 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VPS52 Gene:
This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein
forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle
trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on
chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Jan 2014)

GeneCards Summary for VPS52 Gene:
VPS52 (vacuolar protein sorting 52 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with VPS52 include azoospermia, and ataxia.

UniProtKB/Swiss-Prot: VPS52_HUMAN, Q8N1B4
Function: May be involved in retrograde transport of early and late endosomes to the late Golgi. The GARP complex
is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes,
this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD

Gene Wiki entry for VPS52 Gene


Genomic Views
for VPS52 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NT_113891.3  NT_167245.2  NT_167247.2  NT_167248.2  NT_167249.2  NC_018917.2  
NT_167246.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VPS52 gene promoter:
         ER-alpha   p53   AP-1   ATF-2   Olf-1   Meis-1b   HNF-4alpha1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: VPS52 promoter sequence
   Search Chromatin IP Primers for VPS52

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VPS52


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.3

VPS52 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS52 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M033218:  view genomic region     (about GC identifiers)

Start:
 33,218,049 bp from pter      End:
 33,239,824 bp from pter
Size:
 21,776 bases      Orientation:
 minus strand

6 alternative locations:
Chr6-,NT_167249 4,698,274-4,719,864      Chr6-,NT_167245 4,499,369-4,520,984      Chr6-,NT_167247 4,691,839-4,713,432     
Chr6-,NT_167248 4,450,268-4,471,898      Chr6-,NT_113891.2 4,661,875-4,683,472      Chr6-,NT_167246 4,675,353-4,677,055     

Proteins
for VPS52 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: VPS52_HUMAN, Q8N1B4 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 52 homolog  
Size: 723 amino acids; 82221 Da
Subunit: Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three)
complex, composed of VPS51, VPS52, VPS53 and VPS54. Interacts with RAB6A and STX10
Sequence caution: Sequence=CAI95619.1; Type=Erroneous gene model prediction;
Secondary accessions: A2BF38 B0UZZ4 Q53GR4 Q5JPA0 Q5SQW1 Q8IUN6 Q9NPT5

Explore the universe of human proteins at neXtProt for VPS52: NX_Q8N1B4

Explore proteomics data for VPS52 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys205
  • Modification sites at PhosphoSitePlus

    • See VPS52 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001276103.1  NP_001276104.1  NP_001276105.1  NP_072047.4  

    ENSEMBL proteins: 
     ENSP00000436612   ENSP00000409952   ENSP00000395282  

    VPS52 Human Recombinant Protein Products:

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    Novus Biologicals VPS52 Proteins
    Novus Biologicals VPS52 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for VPS52

    VPS52 Antibody Products:

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    ThermoFisher Antibody for VPS52
    LSBio Antibodies in human, mouse, rat for VPS52

    VPS52 Assay Products:

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    Cloud-Clone Corp. ELISAs for VPS52
    Cloud-Clone Corp. CLIAs for VPS52

    Domains /
    Families
    for VPS52 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    TryGeneCards Plus    		 1 InterPro protein domain:
     IPR007258 Vps52

    Graphical View of Domain Structure for InterPro Entry Q8N1B4

    ProtoNet protein and cluster: Q8N1B4

    UniProtKB/Swiss-Prot: VPS52_HUMAN, Q8N1B4
    Similarity: Belongs to the VPS52 family


    VPS52 for domains           About GeneDecksing


    Function
    for VPS52 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VPS52_HUMAN, Q8N1B4
    Function: May be involved in retrograde transport of early and late endosomes to the late Golgi. The GARP complex
    is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes,
    this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18985028
         
    VPS52 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for VPS52:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Vps52):
     cardiovascular system  embryogenesis  growth/size/body  mortality/aging  normal 

    VPS52 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Vps52tm1.2Kab for VPS52

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VPS52
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for VPS52

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VPS52
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VPS52

    miRNA
    Products:            		Block miRNA regulation of human, mouse, rat VPS52 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate VPS52:
    hsa-miR-124* hsa-miR-1184 hsa-miR-544 hsa-miR-125a-3p hsa-miR-3613-3p hsa-miR-4255 hsa-miR-1827 hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmid: VPS52 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for VPS52
    Predesigned siRNA for gene silencing in human, mouse, rat VPS52

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for VPS52
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    GenScript: all cDNA clones in your preferred vector: VPS52 (NM_022553)
    Sino Biological Human cDNA Clone for VPS52
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VPS52
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VPS52

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for VPS52 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS52


    Localization
    for VPS52 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VPS52_HUMAN, Q8N1B4: Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Endosome
    membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    golgi apparatus3
    cytosol1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0010008endosome membrane IEA--

    VPS52 for ontologies           About GeneDecksing


    Pathways & Interactions
    for VPS52 gene

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VPS52
    Interactions:

        GeneGlobe Interaction Network for VPS52

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for VPS52 (Q8N1B42, 3 ENSP000004099524) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COG3Q96JB23, ENSP000002586544I2D: score=4 STRING: ENSP00000258654
    RAB6BQ9NRW13, ENSP000002852084I2D: score=2 STRING: ENSP00000285208
    TMEM30BQ3MIR43, ENSP000003479304I2D: score=1 STRING: ENSP00000347930
    RAB6AP203403, ENSP000003114494I2D: score=2 STRING: ENSP00000311449
    SC5DO758453, ENSP000002640274I2D: score=1 STRING: ENSP00000264027
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    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010668ectodermal cell differentiation IEA--
    GO:0015031protein transport IEA--
    GO:0048611embryonic ectodermal digestive tract development IEA--

    VPS52 for ontologies           About GeneDecksing



    Drugs & Compounds
    for VPS52 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for VPS52



    Transcripts
    for VPS52 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for VPS52 gene (4 alternative transcripts): 
    NM_001289174.1  NM_001289175.1  NM_001289176.1  NM_022553.5  

    Unigene Cluster for VPS52:

    Vacuolar protein sorting 52 homolog (S. cerevisiae)
    Hs.480356  [show with all ESTs]
    Unigene Representative Sequence: AK093057
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000482399(uc003odo.1) ENST00000445902(uc003odm.1 uc011dqz.1)
    ENST00000478934(uc003odn.1) ENST00000495981 ENST00000493674 ENST00000471309
    ENST00000461743 ENST00000493379 ENST00000495755 ENST00000463486 ENST00000464425
    ENST00000436044(uc011dqy.1)
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat VPS52 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate VPS52:
    hsa-miR-124* hsa-miR-1184 hsa-miR-544 hsa-miR-125a-3p hsa-miR-3613-3p hsa-miR-4255 hsa-miR-1827 hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmid: VPS52 3' UTR sequence
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for VPS52
    Predesigned siRNA for gene silencing in human, mouse, rat VPS52
    Clone
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    OriGene ORF clones in mouse, rat for VPS52
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: VPS52 (NM_022553)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VPS52
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VPS52
    Primer
    Products:            		OriGene qPCR primer pairs and template standards for VPS52
    OriGene qSTAR qPCR primer pairs in human, mouse for VPS52
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VPS52
      QuantiTect SYBR Green Assays in human, mouse, rat VPS52
      QuantiFast Probe-based Assays in human, mouse, rat VPS52

    Additional mRNA sequence: 

    AJ006026.1 AK001725.1 AK093057.1 AK222867.1 AK297935.1 AK299563.1 AK300308.1 AK300430.1 
    AK304080.1 AL390171.1 BC032108.1 BC040114.1 

    22 DOTS entries:

    DT.100657026  DT.100872513  DT.121307939  DT.121307941  DT.100657029  DT.316371  DT.92441544  DT.92060210 
    DT.121308072  DT.121308068  DT.100688733  DT.95329711  DT.95329720  DT.100657028  DT.121307945  DT.121308017 
    DT.425507  DT.91696044  DT.95251824  DT.75119863  DT.95149522  DT.96085306 

    Selected AceView cDNA sequences (see all 325):

    BM272572 BC040114 AW247815 AI754310 BQ941334 AK093057 AW439761 AA593405 
    AL559461 CD107070 AW237668 BG680371 BQ067673 AA454912 CD558898 BC032108 
    AI434054 CB250483 BG231907 AW292560 AA961126 CD512140 BG260938 AU133227 

    GeneLoc Exon Structure


    Expression
    for VPS52 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    VPS52 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGCCTCCTC
    VPS52 Expression
    About this image

    VPS52 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    VPS52 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.480356
        Custom PCR Arrays for VPS52
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS52

    Orthologs
    for VPS52 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for VPS52 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Vps521 , 5 vacuolar protein sorting 52 (yeast)1, 5 88.92(n)1
    98.61(a)1    		   17 (17.98 cM)5
    2247051  NM_172620.31  NP_766208.21 
     339558125 
    lizard
    (Anolis carolinensis)    		 Reptilia VPS526
    		 vacuolar protein sorting 52 homolog (S. cerevisiae...
    		 76(a)
    		 1 ↔ 1
    		 GL343857.1(32393-55125)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.115072 Xenopus laevis transcribed sequence with weak similarity more 76.85(n)    BU911662.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii BM141619.12   -- 76.89(n)    BM141619.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG73711 CG7371 57.18(n)
    51.73(a)    		   33774  NM_135087.2  NP_608931.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea vps-521 vps-52 46.75(n)
    36.69(a)    		   181018  NM_076881.5  NP_509282.3 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes VPS526
    		 Component of the GARP (Golgi-associated retrograde...
    		 19(a)
    		 1 ↔ 1
    		 IV(1422763-1424688) YDR484W
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons POK1 POK 49.34(n)
    36.69(a)    		   843468  NM_105796.3  NP_565015.1 
    rice
    (Oryza sativa)    		 Liliopsida Os03g04179001 Os03g0417900 47.51(n)
    36.85(a)    		   4333120  NM_001056907.1  NP_001050372.1 


    ENSEMBL Gene Tree for VPS52 (if available)
    TreeFam Gene Tree for VPS52 (if available)

    Paralogs
    for VPS52 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Genomic Variants
    for VPS52 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for VPS52 (see all 343)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1424454561,2
    		C--33223169(+) GCCTTA/CATCTC 1 -- int10--------
    rs1151005991,2
    		C,F--33223188(+) ATCCCG/ACCTCA 1 -- int11Minor allele frequency- A:0.03NA 120
    rs1125087031,2
    		C--33223334(+) CAAGGC/TGGGCA 1 -- int11Minor allele frequency- T:0.50WA 2
    rs4180021,2
    		C--33223425(-) tgcccG/Agtatt 1 -- int13Minor allele frequency- A:0.10NA EA 242
    rs2132181,2
    		C,F,A,H--33223426(+) ataccG/Aggcat 1 -- int19Minor allele frequency- A:0.18NS EA WA NA 774
    rs4078191,2
    		C--33223462(-) cctccC/Tgagta 1 -- int10--------
    rs122108021,2
    		C,F,H--33223622(+) aggcaG/Aatccc 1 -- int18Minor allele frequency- A:0.06NS EA NA 1224
    rs2132191,2
    		C,F,A--33223659(+) agagaT/Gtctcc 1 -- int16Minor allele frequency- G:0.40NA WA EA 364
    rs1131055591,2
    		C,F--33223979(+) AGACTC/ATCTTA 1 -- int13Minor allele frequency- A:0.08CSA WA 122
    rs2003215141,2
    		--33224085(+) TACAG-/AAAAAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for VPS52 (33218049 - 33239824 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for VPS52:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830634CNV Loss17160897
    nsv830635CNV Loss17160897
    nsv5249CNV Loss18451855

    Site Specific Mutation Identification with PCR Assays
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    Disorders / Diseases
    for VPS52 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 603443    OMIM disorders: --

    7 diseases for VPS52:    About MalaCards
    azoospermia    ataxia    systemic lupus erythematosus    lupus erythematosus
    prostatitis    prostate cancer    malaria


    VPS52 for disorders           About GeneDecksing

    Genetic Association Database (GAD): VPS52
    Human Genome Epidemiology (HuGE) Navigator: VPS52 (4 documents)

    Export disorders for VPS52 gene to outside databases

    Publications
    for VPS52 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus
    PubMed articles for VPS52 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with VPS52)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel highly conserved gene in the centromeric part of the major histocompatibility complex. (PubMed id 9790748)1, 3, 9 Walter L. and Guenther E. (Genomics 1998)
    2. Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex. (PubMed id 20685960)1, 2 Perez-Victoria F.J.... Bonifacino J.S. (Mol. Biol. Cell 2010)
    3. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
    4. Requirement of the human GARP complex for mannose 6-phosphate- receptor-dependent sorting of cathepsin D to lysosomes. (PubMed id 18367545)1, 2 Perez-Victoria F.J.... Bonifacino J.S. (Mol. Biol. Cell 2008)
    5. Characterization of the human GARP (Golgi associated retrograde protein) complex. (PubMed id 15878329)1, 2 Liewen H.... Stenner-Liewen F. (Exp. Cell Res. 2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    8. Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: primary role of DQB1*0604. (PubMed id 12366783)1, 4 Matsuzaka Y....Inoko H. (Tissue Antigens 2002)
    9. Linkage between polymorphisms in the prostate specific antigen ARE1 gene region, prostate cancer risk, and circulating tumor cells. (PubMed id 12210484)1, 4 Medeiros R....Lopes C. (Prostate 2002)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    External Searches for VPS52 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  
      Query String
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    OMIM
    NCBI Bookshelf
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    Genome Databases showing VPS52 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 6293 HGNC: 10518 AceView: VPS52 Ensembl:ENSG00000223501 euGenes: HUgn6293
    ECgene: VPS52 H-InvDB: VPS52

    Other Databases showing VPS52 gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing VPS52 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for VPS52 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for VPS52 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for VPS52 gene:
    Search GeneIP for patents involving VPS52

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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