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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VPS35 Gene

protein-coding   GIFtS: 56
GCID: GC16M046691

vacuolar protein sorting 35 homolog (S. cerevisiae)

(Previous names: vacuolar protein sorting 35 (yeast homolog), vacuolar protein...)
 Explore 9 diseases affiliated with
VPS35 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for VPS35    

Aliases
for VPS35 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Vacuolar Protein Sorting 35 Homolog (S. Cerevisiae)1 2     FLJ107521
MEM31 2 3 5     Vacuolar Protein Sorting 35 (Yeast Homolog)1
PARK171 2     Vacuolar Protein Sorting 35 (Yeast)1
Maternal-Embryonic 32 3     Vacuolar Protein Sorting-Associated Protein 352
HVPS351     Vesicle Protein Sorting 353

External Ids:    HGNC: 134871   Entrez Gene: 557372   Ensembl: ENSG000000693297   OMIM: 6015015   UniProtKB: Q96QK13   

Export aliases for VPS35 gene to outside databases

Previous GC identifers: GC16M037104 GC16M046634 GC16M046433 GC16M046475 GC16M046474 GC16M045251 GC16M032582


Summaries
for VPS35 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for VPS35:
This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large
multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the
trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex
suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein
interacts directly with VPS35, which serves as the core of the retromer complex. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1
Function: Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors (IGF2R
and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the polymeric
immunoglobulin receptor (pIgR-pIgA)

Gene Wiki entry for VPS35


Genomic Views
for VPS35 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VPS35 gene promoter:
         STAT1   STAT4   STAT1beta   STAT5A   Nkx2-5   Cdc5   STAT1alpha   FAC1   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: VPS35 promoter sequence
   Search SABiosciences Chromatin IP Primers for VPS35

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VPS35


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

Entrez Gene cytogenetic band: 16q12   Ensembl cytogenetic band:  16q11.2   HGNC cytogenetic band: 16q12

VPS35 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS35 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M046691:  view genomic region     (about GC identifiers)

Start:
 46,690,054 bp from pter      End:
 46,723,430 bp from pter
Size:
 33,377 bases      Orientation:
 minus strand

Proteins
for VPS35 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 35  
Size: 796 amino acids; 91707 Da
Subunit: Component of the retromer complex composed of VPS26 (VPS26A or VPS26B), VPS29, VPS35, SNX1 and SNX2. Interacts
directly with VPS26A and VPS26B. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35 and SFN.
Interacts with GOLPH3
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein
Sequence caution: Sequence=AAG01989.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA91137.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14626.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for VPS35:
2R17 (3D)    
Secondary accessions: Q561W2 Q9H016 Q9H096 Q9H4P3 Q9H8J0 Q9NRS7 Q9NVG2 Q9NX80 Q9NZK2

Explore the universe of human proteins at neXtProt for VPS35: NX_Q96QK1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96QK1

    • VPS35 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060676.2  
    ENSEMBL proteins: 
     ENSP00000299138   ENSP00000456274   ENSP00000461469   ENSP00000461423  

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    Uscn Proteins for VPS35

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome IDA--
    GO:0005829cytosol IDA11102511
    GO:0016020membrane IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--


    VPS35 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for VPS35 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    VPS35 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005378 VPS35

    Graphical View of Domain Structure for InterPro Entry Q96QK1

    ProtoNet protein and cluster: Q96QK1

    1 Blocks protein family: IPB005378 Vacuolar protein sorting-associated protein 35

    UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1
    Similarity: Belongs to the VPS35 family


    Function
    for VPS35 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1
    Function: Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors (IGF2R
    and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the polymeric
    immunoglobulin receptor (pIgR-pIgA)

    miRNA
    Products:            		 OriGene 3'-UTR Clone: VPS35
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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate VPS35 (see all 12):
    hsa-miR-569 hsa-miR-3688-3p hsa-miR-513a-3p hsa-miR-586 hsa-miR-488 hsa-miR-371-5p hsa-miR-3161 hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmid: VPS35 3' UTR sequence
    Inhib. RNA
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    OriGene siRNA: VPS35
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19553991


    VPS35 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for VPS35:
     Cell cycle / mitosis defect 

    Animal Models:
         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Vps35):
     behavior/neurological  mortality/aging  nervous system  other 

    VPS35 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for VPS35 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VPS35

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    54/107 Interacting proteins for VPS35 (Q96QK12, 3 ENSP000002991384) via UniProtKB, MINT, STRING, and/or I2D (see all 107) (see top 5)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF512BQ96KM62, 3MINT-60836 I2D: score=2 
    HIST1H2BCP628073I2D: score=1 
    HIST1H2BEP628073I2D: score=1 
    HIST1H2BFP628073I2D: score=1 
    HIST1H2BGP628073I2D: score=1 
    HIST1H2BIP628073I2D: score=1 
    VPS26BQ4G0F53, ENSP000002811874I2D: score=9 STRING: ENSP00000281187
    H2AFXP161043, ENSP000003643104I2D: score=3 STRING: ENSP00000364310
    MTNR1BP492863, ENSP000002570684I2D: score=2 STRING: ENSP00000257068
    SNX2O607493, ENSP000003688314I2D: score=2 STRING: ENSP00000368831
    USP32Q8NFA03, ENSP000003008964I2D: score=2 STRING: ENSP00000300896
    USP43Q70EL43, ENSP000002851994I2D: score=2 STRING: ENSP00000285199
    VPS29Q9UBQ03, ENSP000003807954I2D: score=16 STRING: ENSP00000380795
    ATP6V1DQ9Y5K83, ENSP000002164424I2D: score=1 STRING: ENSP00000216442
    CLTCQ006103, ENSP000002691224I2D: score=1 STRING: ENSP00000269122
    GABARAPL2P605203, ENSP000000372434I2D: score=1 STRING: ENSP00000037243
    RYKP349253, ENSP000002960844I2D: score=1 STRING: ENSP00000296084
    VAC14Q08AM63, ENSP000002617764I2D: score=1 STRING: ENSP00000261776
    UBCP0CG483, ENSP000003448184I2D: score=2 STRING: ENSP00000344818
    SNX1Q135963, ENSP000003696384I2D: score=9 STRING: ENSP00000369638
    IRF4Q153063, ENSP000003703434I2D: score=1 STRING: ENSP00000370343
    ZBP1Q9H1713, ENSP000003602154I2D: score=1 STRING: ENSP00000360215
    TRMT5Q32P413, ENSP000002612494I2D: score=3 STRING: ENSP00000261249
    GRTP1Q5TC633, ENSP000003645804I2D: score=1 STRING: ENSP00000364580
    PFDN5Q994713, ENSP000003341884I2D: score=1 STRING: ENSP00000334188
    TOP1P113873, ENSP000003545224I2D: score=1 STRING: ENSP00000354522
    ATP13A1Q9HD203, ENSP000003498774I2D: score=1 STRING: ENSP00000349877
    HGSO149643, ENSP000003312014I2D: score=2 STRING: ENSP00000331201
    ATP2B3Q167203I2D: score=4 
    MTMR8Q96EF03I2D: score=3 
    WDR12Q9GZL73I2D: score=3 
    CBX3Q131853I2D: score=2 
    HSP90AA1P079003I2D: score=2 
    MCCP235083I2D: score=2 
    RAC1P630003I2D: score=2 
    ARFGAP1Q8N6T33I2D: score=1 
    ARFRP1Q137953I2D: score=1 
    ARL1P406163I2D: score=1 
    ARRB2P321213I2D: score=1 
    ATP2C1P981943I2D: score=1 
    ATP6V1C1P212833I2D: score=1 
    BOP1Q141373I2D: score=1 
    C12orf44Q9BSB43I2D: score=1 
    CEBPZQ037013I2D: score=1 
    CLPXO760313I2D: score=1 
    DDA1Q9BW613I2D: score=1 
    DDOSTP396563I2D: score=1 
    DLSTP369573I2D: score=1 
    DNAJA1P316893I2D: score=1 
    DYNC1H1Q142043I2D: score=1 
    EEF1GP266413I2D: score=1 
    HDDC2Q7Z4H33I2D: score=1 
    HIP1RO751463I2D: score=1 
    HIST1H2BHQ930793I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0015031protein transport IEA--
    GO:0042147retrograde transport, endosome to Golgi NAS11102511


    VPS35 for ontologies           About GeneDecksing



    Drugs & Compounds
    for VPS35 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VPS35
    Search CenterWatch for drugs/clinical trials and news about VPS35 

    Transcripts
    for VPS35 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for VPS35 gene: 
    NM_018206.4  

    Unigene Cluster for VPS35:

    Vacuolar protein sorting 35 homolog (S. cerevisiae)
    Hs.454528  [show with all ESTs]
    Unigene Representative Sequence: AK025774
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000299138(uc002eef.4) ENST00000568784(uc002eed.3 uc002eee.3)
    ENST00000562420 ENST00000568642 ENST00000569950 ENST00000565228 ENST00000563884
    ENST00000568612 ENST00000561713 ENST00000568191 ENST00000563984

    miRNA
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    hsa-miR-569 hsa-miR-3688-3p hsa-miR-513a-3p hsa-miR-586 hsa-miR-488 hsa-miR-371-5p hsa-miR-3161 hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmid: VPS35 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AF175265.1 AF183418.1 AF186382.1 AF191298.2 AK000395.1 AK001614.1 AK023650.1 AK025774.1 
    AK223218.1 AL136888.1 AL512769.1 AY007112.1 BC002414.2 BC010362.1 BC041367.2 BC093036.1 

    24/34 DOTS entries (see all 34):

    DT.454462  DT.100881305  DT.95369874  DT.100881306  DT.100725496  DT.100881303  DT.100881298  DT.100881299 
    DT.211205  DT.95369860  DT.120665384  DT.120665392  DT.120665380  DT.120665354  DT.120665387  DT.95369869 
    DT.97860347  DT.101959592  DT.120665357  DT.120665389  DT.120665427  DT.92453902  DT.100881297  DT.100881300 

    24/621 AceView cDNA sequences (see all 621):

    CD558865 AI989821 CA444729 AI280716 CB112878 AI866449 BX379816 AL041076 
    AF183418 BE909765 AW672736 BQ433648 CB137428 CB988432 AI302924 BX422707 
    AW511973 AL043647 AW518217 BC002414 AL512769 T33241 F10817 AI524301 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for VPS35 (see all 14)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13 ^ 14 ^
    SP1:                          -                 -     -                 -     -                                                                                 
    SP2:                                            -     -                 -     -                                                                                 
    SP3:                                            -     -     -     -     -                                                                                       
    SP4:                          -           -     -     -     -           -     -                                                                                 
    SP5:              -     -     -                 -     -                 -     -                                                                                 

    ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for VPS35

    Expression
    for VPS35 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VPS35 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGTCCTCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See VPS35 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VPS35

    SOURCE GeneReport for Unigene cluster: Hs.454528

    UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1
    Tissue specificity: Ubiquitous. Highly expressed in heart, brain, placenta, skeletal muscle, spleen, thymus, testis,
    ovary, small intestine, kidney and colon

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    Orthologs
    for VPS35 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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for VPS35 gene from 10/37 species (see all 37)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Vps351 , 5 vacuolar protein sorting 351, 5 91.46(n)1
    99.37(a)1    		   8 (41.61 cM)5
    651141  NM_022997.41  NP_075373.11 
     852603925 
    chicken
    (Gallus gallus)    		 Aves VPS351 vacuolar protein sorting 35 homolog (S. cerevisiae) 84.21(n)
    97.99(a)    		   415750  NM_001005842.1  NP_001005842.1 
    lizard
    (Anolis carolinensis)    		 Reptilia VPS356
    		 --
    		 97(a)
    		 1 ↔ 1
    		 LGc(3607708-3631393)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.81442 Xenopus laevis transcribed sequence with strong similarity more 80.55(n)    CA988274.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii vps351 vacuolar protein sorting 35 (yeast) 76.76(n)
    93.97(a)    		   561697  NM_001025517.2  NP_001020688.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG56253
    Vps351    		 vesicle-mediated transport3
    Vacuolar protein sorting 351    		 58(a)3
    59.71(n)1
    62.63(a)1    		   58C73
    375361  NM_137807.31  NP_611651.41 
    worm
    (Caenorhabditis elegans)    		 Secernentea vps-351 Protein VPS-35 55.12(n)
    49.94(a)    		   174000  NM_062779.3  NP_495180.2 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes VPS35(YJL154C)4
    VPS351    		 Endosomal subunit of membrane-associated retromer complex more4
    Vps35p1    		 49.82(n)1
    37.57(a)1    		   10(133935-131101)4
    8532871, 4  NP_012381.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons VPS35B1 vacuolar sorting protein 35 52.57(n)
    44.88(a)    		   843918  NM_106235.4  NP_177713.3 
    rice
    (Oryza sativa)    		 Liliopsida AK069591.12   -- 72.38(n)    AK069591.1 


    ENSEMBL Gene Tree for VPS35 (if available)
    TreeFam Gene Tree for VPS35 (if available) 

    Paralogs
    for VPS35 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VPS35 gene
    1 SIMAP similar gene for VPS35 using alignment to 4 protein entries:     VPS35_HUMAN (see all proteins):
    DKFZp686O2462

    VPS35 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for VPS35
    PGOHUM00000249099


    Genomic Variants
    for VPS35 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/356 NCBI SNPs in VPS35 are shown (see all 356)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1882869431,2
    		C,Fpathogenic34973276(+) GGAATC/TGCTGA 2 N D mis13Minor allele frequency- T:0.00EU 5092
    rs1842770921,2
    		Cunknown34966712(+) AATCCG/ACTGAT 2 /R /W mis13Minor allele frequency- A:0.00EU 5096
    rs115504611,2
    		C--32582925(+) GTGAAT/CAATTT 1 -- ut311Minor allele frequency- C:0.00NA 2
    rs1924190291,2
    		F--32583175(+) CTCCAG/TTGTGT 2 M L mis12Minor allele frequency- T:0.00EU 3754
    rs16459431,2
    		C,H--32583369(-) TAACAG/AAAGCT 1 -- int17Minor allele frequency- A:0.00MN NS EA NA 606
    rs80457591,2
    		C,--32583966(+) tcaagC/G/Tgattc 1 -- int10--------
    rs1116818441,2
    		C,--32584022(+) CCACGA/CCTAGC 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs1114452651,2
    		C,--32584768(+) TTGTTA/CATCAG 1 -- int10--------
    rs774767331,2
    		C,F,--32585512(+) ACACAT/CTCAGT 1 -- int11Minor allele frequency- C:0.02EA 120
    rs346871001,2
    		C,F--32585639(+) ATGCGA/TCTGTC 2 D V mis13Minor allele frequency- T:0.03NA 72

    HapMap Linkage Disequilibrium report for VPS35 (46690054 - 46723430 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for VPS35: --
    Human Gene Mutation Database (HGMD): VPS35

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    Disorders / Diseases
    for VPS35 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    VPS35 for disorders           About GeneDecksing

    OMIM gene information: 601501    OMIM disorders: --

    UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1
  • Defects in VPS35 are the cause of Parkinson disease type 17 (PARK17) [MIM:614203]. PARK17 is an autosomal
    • dominant, adult-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder
    characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically
    significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the
    substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving
    neurons in various areas of the brain

    9 diseases for VPS35:    About MalaCards
    tremor    parkinson's disease    hepatocellular carcinoma    alzheimer's disease
    colorectal cancer    breast cancer    schizophrenia    carcinoma
    malaria

    1 disease from the University of Copenhagen DISEASES database for VPS35:
    Parkinson's disease

    Export disorders for VPS35 gene to outside databases

    Publications
    for VPS35 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

    PubMed articles for VPS35 gene, integrated from 9 sources (see all 75):
    (articles sorted by number of sources associating them with VPS35)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. VPS35 mutations in Parkinson disease. (PubMed id 21763482)1, 2, 3 Vilarino-Guell C.... Farrer M.J. (2011)
    2. Cloning and characterization of human VPS35 and mouse Vps35 and mapping of VPS35 to human chromosome 16q13-q21. (PubMed id 11112353)1, 2, 3 Zhang P.... Zhao S. (2000)
    3. Human homologues of yeast vacuolar protein sorting 29 and 35. (PubMed id 11062004)1, 2, 9 Edgar A.J. and Polak J.M. (2000)
    4. Identification of VPS35 mutations replicated in French families with Parkinson disease. (PubMed id 22517097)1, 2 Lesage S.... Brice A. (2012)
    5. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. (PubMed id 21763483)1, 2 Zimprich A.... Strom T.M. (2011)
    6. GOLPH3 modulates mTOR signalling and rapamycin sensitivity in cancer. (PubMed id 19553991)1, 2 Scott K.L.... Chin L. (2009)
    7. Functional architecture of the retromer cargo-recognition complex. (PubMed id 17891154)1, 2 Hierro A.... Hurley J.H. (2007)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Exportin 7 defines a novel general nuclear export pathway. (PubMed id 15282546)1, 2 Mingot J.-M.... Goerlich D. (2004)
    10. The mammalian retromer regulates transcytosis of the polymeric immunoglobulin receptor. (PubMed id 15247922)1, 2 Verges M.... Mostov K.E. (2004)

    External Searches for VPS35 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing VPS35 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55737 HGNC: 13487 AceView: VPS35 Ensembl:ENSG00000069329 euGenes: HUgn55737
    ECgene: VPS35 H-InvDB: VPS35

    Other Databases showing VPS35 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing VPS35 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for VPS35 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for VPS35 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for VPS35 gene:
    Search GeneIP for patents involving VPS35

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



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