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VPS13D Gene

protein-coding   GIFtS: 52
GCID: GC01P012290

Vacuolar Protein Sorting 13 Homolog D (S. Cerevisiae)

(Previous name: vacuolar protein sorting 13D (yeast))
  See VPS13D-related disease
at  

(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 13 Homolog D (S. Cerevisiae)1 2
Vacuolar Protein Sorting 13D (Yeast)1
Vacuolar Protein Sorting 13D2
Vacuolar Protein Sorting-Associated Protein 13D2
KIAA04533

External Ids:    HGNC: 235951   Entrez Gene: 551872   Ensembl: ENSG000000487077   OMIM: 6088775   UniProtKB: Q5THJ43   

Export aliases for VPS13D gene to outside databases

Previous GC identifers: GC01P012096 GC01P012003 GC01P012224 GC01P011443


(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 VPS13D Gene:
This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast,
vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi
network and the prevacuolar compartment. While several transcript variants may exist for this gene, the
full-length natures of only two have been described to date. These two represent the major variants of this gene
and encode distinct isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for VPS13D Gene:
VPS13D (vacuolar protein sorting 13 homolog D (S. cerevisiae)) is a protein-coding gene. Diseases associated with VPS13D include chorea-acanthocytosis. An important paralog of this gene is VPS13B.

Gene Wiki entry for VPS13D 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 at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the VPS13D gene promoter:
         Bach1   POU3F1   MyoD   PPAR-gamma1   AP-2beta   Chx10   PPAR-gamma2   AP-2alpha   RSRFC4   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVPS13D promoter sequence
   Search Chromatin IP Primers for VPS13D

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VPS13D


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

Entrez Gene cytogenetic band: 1p36.22   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.21

VPS13D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS13D gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P012290:  view genomic region     (about GC identifiers)

Start:
12,290,113 bp from pter      End:
12,572,099 bp from pter
Size:
281,987 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VP13D_HUMAN, Q5THJ4 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 13D  
Size: 4387 amino acids; 491845 Da
Sequence caution: Sequence=BAC86054.1; Type=Frameshift; Positions=3073; Sequence=CAE46021.1; Type=Frameshift;
Positions=3688;
Secondary accessions: Q58F10 Q6MZK9 Q6ZV12 Q709C4 Q709C5 Q86UB4 Q9NSJ3 Q9UIM0
Alternative splicing: 2 isoforms:  Q5THJ4-1   Q5THJ4-2   

Explore the universe of human proteins at neXtProt for VPS13D: NX_Q5THJ4

Explore proteomics data for VPS13D at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See VPS13D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_056193.2  NP_060626.2  

    ENSEMBL proteins: 
     ENSP00000350854   ENSP00000348666   ENSP00000011700   ENSP00000473375   ENSP00000469344  
     ENSP00000441122   ENSP00000444120  

    VPS13D Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for VPS13D

     
    Search eBioscience for Proteins for VPS13D 

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    VPS13D Assay Products:

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    Search eBioscience for ELISAs for VPS13D 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR009543 VPSAP_dom
     IPR009060 UBA-like
     IPR000449 UBA/Ts_N
     IPR026847 VPS13
     IPR015940 UBA/transl_elong_EF1B_N_euk

    Graphical View of Domain Structure for InterPro Entry Q5THJ4

    ProtoNet protein and cluster: Q5THJ4

    1 Blocks protein domain: IPB009543 Protein of unknown function DUF1162

    UniProtKB/Swiss-Prot: VP13D_HUMAN, Q5THJ4
    Similarity: Belongs to the VPS13 family
    Similarity: Contains 1 UBA domain


    Find genes that share domains with VPS13D           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with VPS13D           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for VPS13D:
     Increased G1 DNA content 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Vps13d):
     mortality/aging 

    Find genes that share phenotypes with VPS13D           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VPS13D
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for VPS13D

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VPS13D
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VPS13D

    miRNA
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    miRTarBase miRNAs that target VPS13D:
    hsa-mir-10a-3p (MIRT038671), hsa-mir-128-3p (MIRT022025), hsa-let-7e-5p (MIRT051432), hsa-mir-342-5p (MIRT038209), hsa-mir-132-3p (MIRT021825), hsa-mir-7-5p (MIRT025941)

    Block miRNA regulation of human, mouse, rat VPS13D using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VPS13D (see all 38):
    hsa-miR-579 hsa-let-7a-2* hsa-miR-301a hsa-miR-1304 hsa-miR-1276 hsa-miR-376a* hsa-miR-130b hsa-miR-301b
    SwitchGear 3'UTR luciferase reporter plasmidVPS13D 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat VPS13D

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): VPS13D (NM_015378)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VPS13D
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS13D


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    plasma membrane2
    endoplasmic reticulum1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with VPS13D           About GenesLikeMe


    (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 VPS13D
    Interactions:

        Search GeneGlobe Interaction Network for VPS13D

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

    Selected Interacting proteins for VPS13D (Q5THJ43 ENSP000003508544) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MADDQ8WXG63, ENSP000003109334I2D: score=2 STRING: ENSP00000310933
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    STK4Q130433I2D: score=1 
    CETN3ENSP000002831224STRING: ENSP00000283122
    CHTF18ENSP000002623154STRING: ENSP00000262315
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    (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)
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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 VPS13D (VP13D)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for VPS13D gene (2 alternative transcripts): 
    NM_015378.2  NM_018156.2  

    Unigene Cluster for VPS13D:

    Vacuolar protein sorting 13 homolog D (S. cerevisiae)
    Hs.439381  [show with all ESTs]
    Unigene Representative Sequence: NM_015378
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358136(uc001atv.3 uc001atx.3) ENST00000356315(uc001atw.3 uc010obd.2)
    ENST00000476169 ENST00000489961 ENST00000011700 ENST00000460333 ENST00000487188(uc001aty.1)
    ENST00000469054 ENST00000496628(uc009vnl.3) ENST00000466732 ENST00000476045
    ENST00000481484 ENST00000471923 ENST00000473099 ENST00000543766 ENST00000543710

    miRNA
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    Block miRNA regulation of human, mouse, rat VPS13D using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VPS13D (see all 38):
    hsa-miR-579 hsa-let-7a-2* hsa-miR-301a hsa-miR-1304 hsa-miR-1276 hsa-miR-376a* hsa-miR-130b hsa-miR-301b
    SwitchGear 3'UTR luciferase reporter plasmidVPS13D 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for VPS13D
    Predesigned siRNA for gene silencing in human, mouse, rat VPS13D
    Clone
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    OriGene clones in human, mouse for VPS13D (see all 8)
    OriGene ORF clones in mouse, rat for VPS13D
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): VPS13D (NM_015378)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VPS13D
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat VPS13D
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for VPS13D
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VPS13D
      QuantiTect SYBR Green Assays in human, mouse, rat VPS13D
      QuantiFast Probe-based Assays in human, mouse, rat VPS13D

    Additional mRNA sequence: 

    AB007922.3 AF052104.1 AJ608774.1 AJ608775.1 AK001481.1 AK025257.1 AK026719.1 AK057675.1 
    AK074350.1 AK095438.1 AK125118.1 AK129744.1 AK295882.1 AK304850.1 AL162331.1 AL833079.1 
    AL833320.1 BC025329.1 BC028115.1 BC042006.1 BC051804.1 BX641035.1 

    Selected DOTS entries (see all 26):

    DT.454038  DT.99958709  DT.121343277  DT.91730142  DT.100019600  DT.100821613  DT.95178106  DT.40263238 
    DT.100821608  DT.91744433  DT.440095  DT.101958787  DT.121343270  DT.40275774  DT.91659298  DT.91705470 
    DT.91730139  DT.91744424  DT.95166162  DT.95178113  DT.95243118  DT.95299349  DT.99943365  DT.70103658 

    Selected AceView cDNA sequences (see all 359):

    AL118592 CB155068 BM719840 BM673588 AI493546 AA364804 BM839087 F03896 
    CA310426 AI149773 BC051804 AL041023 AI754796 BU689940 BC028115 AW117200 
    AW193512 AI077324 BM930146 CA442047 AI623899 N73777 CD655090 AB007922 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for VPS13D (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                      -                                                                                                                     
    SP2:                                      -                                                                                                                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40 ^ 41a · 41b ^ 42 ^ 43 ^ 44 ^ 45 ^
    SP1:                                                                                                        -                 -                                 
    SP2:                                                                                                        -     -           -                                 
    SP3:                                                                                                        -                 -                                 
    SP4:                                                                                                        -     -           -                                 
    SP5:                                                                                                                                                            

    ExUns: 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^ 70 ^ 71a ·
    SP1:                                      -                                                                                   -                 -     -     -   
    SP2:                                      -                                                                                   -                 -     -     -   
    SP3:                                      -                                                                                   -                 -     -     -   
    SP4:                                      -                                                                                                                     
    SP5:                                                                                                                                                            

    ExUns: 71b ^ 72a · 72b · 72c · 72d · 72e ^
    SP1:                                -   
    SP2:                                -   
    SP3:                                -   
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for VPS13D

    (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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    VPS13D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    VPS13D Expression
    About this image

    VPS13D Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VPS13D Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.439381

    UniProtKB/Swiss-Prot: VP13D_HUMAN, Q5THJ4
    Tissue specificity: Widely expressed

        Custom PCR Arrays for VPS13D
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    QuantiFast Probe-based Assays in human, mouse, rat VPS13D
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS13D

    (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 animals and fungi.

    Orthologs for VPS13D gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vps13d1 , 5 vacuolar protein sorting 13 D (yeast)1, 5 87.07(n)1
    93.35(a)1
      4 (78.17 cM)5
    2308951  NM_001276465.11  NP_001263394.11 
     1449726225 
    chicken
    (Gallus gallus)
    Aves VPS13D1 vacuolar protein sorting 13 homolog D (S. cerevisiae) 75.67(n)
    82.51(a)
      419481  XM_417637.4  XP_417637.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    86(a)
    85(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    GL344449.1(17355-17826)
    GL344449.1(36442-50509)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ625028.12   -- 75.53(n)    BJ625028.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vps13d1 vacuolar protein sorting 13D (yeast) 65.36(n)
    68.22(a)
      567879  XM_001919953.4  XP_001919988.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG321131 CG32113 45.44(n)
    34.82(a)
      39448  NM_168512.3  NP_729825.2 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_C25H3.81 CELE_C25H3.8 42.67(n)
    31.83(a)
      173962  NM_062709.4  NP_495110.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS136
    Protein of unknown function; heterooligomeric or h...
    18(a)
    1 → many
    XII(54211-63645) YLL040C


    ENSEMBL Gene Tree for VPS13D (if available)
    TreeFam Gene Tree for VPS13D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VPS13D gene
    VPS13B2  VPS13A2  VPS13C2  

    Find genes that share paralogs with VPS13D           About GenesLikeMe



    (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)
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    Selected SNPs for VPS13D (see all 5144)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1505982431,2
    C,Funtested112378274(+) GCCACC/TGTAAC 4 R C mis12Minor allele frequency- T:0.00NA EU 5873
    rs1887046131,2
    --12288258(+) CACCGC/TGCCTG 2 -- us2k10--------
    rs1814051061,2
    --12288279(+) TGTGCA/GTTTCT 2 -- us2k10--------
    rs1459339871,2
    --12288378(+) CTTCTA/GTCTGT 2 -- us2k10--------
    rs1869548001,2
    --12288497(+) TCAGCC/TCAACA 2 -- us2k10--------
    rs1170134551,2
    C,F--12288532(+) TGAGGG/CTTGGT 2 -- us2k11Minor allele frequency- C:0.02EA 120
    rs1709571,2
    C,F,A--12288869(-) aaaatG/Aaaaat 2 -- us2k1 tfbs35Minor allele frequency- A:0.17NA WA CSA 126
    rs4290251,2
    C,F--12288935(-) gaggcG/Agaggt 2 -- us2k13Minor allele frequency- A:0.17NA WA 6
    rs1916986981,2
    --12288942(+) CCTCCC/TGGGTT 2 -- us2k10--------
    rs1822561261,2
    --12288972(+) AGCTTC/TCCCAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for VPS13D (12290113 - 12540113 bp, first 250kb of VPS13D)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for VPS13D:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2743809CNV Deletion23290073
    esv2667673CNV Deletion23128226
    nsv508891CNV Insertion20534489
    nsv817617CNV Loss17921354
    nsv2743CNV Loss18451855
    nsv2854CNV Loss18451855
    esv275384CNV Loss21479260
    nsv528439CNV Loss19592680
    nsv517848CNV Gain19592680
    nsv471622CNV Gain+Loss15918152

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VPS13D
    DNA2.0 Custom Variant and Variant Library Synthesis for VPS13D

    (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.)
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    OMIM gene information: 608877    OMIM disorders: --

    1 disease for VPS13D:    
    About MalaCards
    chorea-acanthocytosis

    1 disease from the University of Copenhagen DISEASES database for VPS13D:
    chorea-acanthocytosis

    Find genes that share disorders with VPS13D           About GenesLikeMe

    Genetic Association Database (GAD): VPS13D
    Human Genome Epidemiology (HuGE) Navigator: VPS13D (2 documents)

    Export disorders for VPS13D gene to outside databases

    (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)
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    PubMed articles for VPS13D gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with VPS13D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Identification of evidence suggestive of an association with peripheral arterial disease at the OSBPL10 locus by genome-wide investigation in the Japanese population. (PubMed id 20610895)1, 4 Koriyama H....Morishita R. (J. Atheroscler. Thromb. 2010)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. Analysis of the human VPS13 gene family. (PubMed id 15498460)1, 2 Velayos-Baeza A....Monaco A.P. (Genomics 2004)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2 Seki N.... Ohara O. (DNA Res. 1997)
    8. Identification of proteins associated with ligand-activated estrogen receptor I+ in human breast cancer cell nuclei by tandem affinity purification and nano LC-MS/MS. (PubMed id 21182205)1 Tarallo R....Weisz A. (Proteomics 2011)
    9. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55187 HGNC: 23595 AceView: VPS13D Ensembl:ENSG00000048707 euGenes: HUgn55187
    ECgene: VPS13D H-InvDB: VPS13D

    (According to HUGE)
    About This Section

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    HUGE: KIAA0453

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for VPS13D Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for VPS13D Genetics and Cytogenetics in Oncology and Haematology

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

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    Patent Information for VPS13D gene:
    Search GeneIP for patents involving VPS13D

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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