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

VPS13B Gene

protein-coding   GIFtS: 52
GCID: GC08P100095

Vacuolar Protein Sorting 13 Homolog B (Yeast)

(Previous name: Cohen syndrome 1)
(Previous symbols: CHS1, COH1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Vacuolar Protein Sorting 13 Homolog B (Yeast)1 2     Vacuolar Protein Sorting-Associated Protein 13B2
COH11 2 3 5     KIAA05323
CHS11 2 3     Cohen Syndrome Protein 13
Cohen Syndrome 11     

External Ids:    HGNC: 21831   Entrez Gene: 1576802   Ensembl: ENSG000001325497   OMIM: 6078175   UniProtKB: Q7Z7G83   

Export aliases for VPS13B gene to outside databases

Previous GC identifer: GC08P095228


(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 VPS13B Gene:
This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of
proteins within the cell. This protein may play a role in the development and the function of the eye,
hematological system, and central nervous system. Mutations in this gene have been associated with Cohen
syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. (provided by
RefSeq, Jul 2008)

GeneCards Summary for VPS13B Gene: 
VPS13B (vacuolar protein sorting 13 homolog B (yeast)) is a protein-coding gene. Diseases associated with VPS13B include cohen syndrome, and cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness. An important paralog of this gene is VPS13D.

UniProtKB/Swiss-Prot: VP13B_HUMAN, Q7Z7G8
Function: May be involved in protein sorting in post Golgi membrane traffic (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VPS13B gene promoter:
         USF1   AML1a   AP-1   LCR-F1   C/EBPalpha   IRF-2   USF-1   Cart-1   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVPS13B promoter sequence
   Search SABiosciences Chromatin IP Primers for VPS13B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VPS13B


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

Entrez Gene cytogenetic band: 8q22.2   Ensembl cytogenetic band:  8q22.2   HGNC cytogenetic band: 8q22-q23

VPS13B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS13B gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P100095:  view genomic region     (about GC identifiers)

Start:
100,025,494 bp from pter      End:
100,889,808 bp from pter
Size:
864,315 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VP13B_HUMAN, Q7Z7G8 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 13B  
Size: 4022 amino acids; 448664 Da
Sequence caution: Sequence=BAC03664.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: C9JD30 Q709C6 Q709C7 Q7Z7G4 Q7Z7G5 Q7Z7G6 Q7Z7G7 Q8NB77 Q9NWV1 Q9Y4E7
Alternative splicing: 6 isoforms:  Q7Z7G8-1   Q7Z7G8-2   Q7Z7G8-3   Q7Z7G8-4   Q7Z7G8-5   Q7Z7G8-6   (Ref.1 (AAP41106) and Ref.3 (BAA91275) sequences differ from that shown due to erroneous termination (Stop codon at position 412))

Explore the universe of human proteins at neXtProt for VPS13B: NX_Q7Z7G8

Explore proteomics data for VPS13B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7Z7G8

  • VPS13B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VPS13B Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_056058.2  NP_060360.3  NP_689777.3  NP_858047.2  

    ENSEMBL proteins: 
     ENSP00000347281   ENSP00000430900   ENSP00000349685   ENSP00000351346   ENSP00000398472  
     ENSP00000428809   ENSP00000379318  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR026847 VPS13
     IPR015412 Autophagy-rel_C
     IPR009543 VPSAP_dom
     IPR026854 VPS13A_N

    Graphical View of Domain Structure for InterPro Entry Q7Z7G8

    ProtoNet protein and cluster: Q7Z7G8

    UniProtKB/Swiss-Prot: VP13B_HUMAN, Q7Z7G8
    Similarity: Belongs to the VPS13 family


    VPS13B for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VP13B_HUMAN, Q7Z7G8
    Function: May be involved in protein sorting in post Golgi membrane traffic (By similarity)

    Animal Models:

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    SwitchGear 3'UTR luciferase reporter plasmidVPS13B 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for VPS13B

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for VPS13B (Q7Z7G83 ENSP000003513464) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOC2Q96KP13I2D: score=3 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--

    VPS13B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 VPS13B (VP13B)

    Search CenterWatch for drugs/clinical trials and news about VPS13B / VP13B

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for VPS13B gene (5 alternative transcripts): 
    NM_015243.2  NM_017890.4  NM_152564.4  NM_181661.2  NM_184042.1  

    Unigene Cluster for VPS13B:

    Vacuolar protein sorting 13 homolog B (yeast)
    Hs.191540  [show with all ESTs]
    Unigene Representative Sequence: NM_017890
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355155(uc003yit.3) ENST00000496144(uc003yiu.1 uc003yix.1)
    ENST00000357162(uc003yiw.3) ENST00000358544(uc003yiv.3) ENST00000441350(uc003yis.3 uc011lgy.2)
    ENST00000524330 ENST00000521932 ENST00000522802 ENST00000521037 ENST00000521559
    ENST00000518569 ENST00000493587 ENST00000395996
    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate VPS13B:
    hsa-miR-300 hsa-miR-3622b-3p hsa-miR-3166 hsa-miR-381 hsa-miR-590-3p hsa-miR-450b-5p hsa-miR-1269
    SwitchGear 3'UTR luciferase reporter plasmidVPS13B 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VPS13B

    Additional mRNA sequence: 

    AB011104.1 AJ608772.1 AJ608773.1 AK000590.1 AK091431.1 AK124623.1 AK223122.1 AY223814.1 
    AY223815.1 AY223816.1 AY223817.1 AY223818.1 BC020813.1 BC033121.1 BC094749.1 BC132976.1 
    BC132978.1 BC144379.1 BX647561.1 NR_047582.1 

    16 DOTS entries:

    DT.415859  DT.95115142  DT.40117586  DT.95113537  DT.95261661  DT.75108273  DT.100648301  DT.100652127 
    DT.101959136  DT.121490218  DT.121490172  DT.206326  DT.91973088  DT.95264842  DT.40109456  DT.97762837 

    24/141 AceView cDNA sequences (see all 141):

    AY223815 NM_184042 BE144244 BM042844 BQ880112 AY223814 AJ608772 NM_181661 
    AY223818 BC033121 BM563683 AW514631 BM476150 AA496788 BM042444 BE048857 
    AJ608773 BM996366 BX648610 AY223816 BX423504 CA432672 Z42890 AL699446 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for VPS13B (see all 7)    About this scheme

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

    ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 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 ^ 61a · 61b ^ 62 ^ 63 ^ 64
    SP1:                                                                                            -                           
    SP2:                                                                                            -                           
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for VPS13B

    (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

    VPS13B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTTTAAATG
    VPS13B Expression
    About this image


    See VPS13B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VPS13B

    SOURCE GeneReport for Unigene cluster: Hs.191540

    UniProtKB/Swiss-Prot: VP13B_HUMAN, Q7Z7G8
    Tissue specificity: Widely expressed. There is apparent differential expression of different transcripts. In fetal
    brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified. These transcripts are also seen in
    all adult tissues analyzed. A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in
    the adult. Expression is very low in adult brain tissue. Isoform 1 and isoform 2 are expressed in brain and
    retina. Isoform 2 is expressed ubiquitously

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    (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 animals and fungi.

    Orthologs for VPS13B gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vps13b1 , 5 vacuolar protein sorting 13B (yeast)1, 5 86.42(n)1
    87.32(a)1
      15 (14.46 cM)5
    6661731  NM_177151.31  NP_796125.21 
     353715465 
    chicken
    (Gallus gallus)
    Aves VPS13B1 vacuolar protein sorting 13 homolog B (yeast) 77.24(n)
    79.65(a)
      420242  XM_418354.3  XP_418354.3 
    lizard
    (Anolis carolinensis)
    Reptilia VPS13B6
    vacuolar protein sorting 13 homolog B (yeast)
    78(a)
    1 ↔ 1
    GL343394.1(456136-842061)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.117352 Transcribed sequence with moderate similarity to protein more 79.59(n)    BQ527600.1 
    zebrafish
    (Danio rerio)
    Actinopterygii --
    VPS13B6
    (see all 5)
    vacuolar protein sorting 13 homolog B (yeast)
    (see all 5)
    89(a)
    82(a)
    (see all 5)
    possible ortholog
    1 ↔ 1
    (see all 5)
    16(58045556-58046383)
    16(57883040-57883735)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG155231 CG15523 42.01(n)
    28.55(a)
      43550  NM_143496.4  NP_651753.2 
    worm
    (Caenorhabditis elegans)
    Secernentea C25H3.116
    Protein C25H3.11
    9(a)
    1 ↔ 1
    II(5684479-5689030)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS136
    Protein of unknown function; heterooligomeric or h...
    7(a)
    1 → many
    XII(54211-63645)


    ENSEMBL Gene Tree for VPS13B (if available)
    TreeFam Gene Tree for VPS13B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VPS13B gene
    VPS13D2  VPS13A2  VPS13C2  

    VPS13B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for VPS13B
    PGOHUM00000237210


    (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) 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

    10/14661 SNPs in VPS13B are shown (see all 14661)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0587554
    Cohen syndrome (COH1)4--see VAR_0587552 I T mis40--------
    VAR_0363254
    A breast cancer sample4--see VAR_0363252 L V mis40--------
    VAR_0384234
    Cohen syndrome (COH1)4--see VAR_0384232 G D mis40--------
    VAR_0587544
    Cohen syndrome (COH1)4--see VAR_0587542 S L mis40--------
    VAR_0384224
    Cohen syndrome (COH1)4--see VAR_0384222 Y C mis40--------
    VAR_0177594
    Cohen syndrome (COH1)4--see VAR_0177592 L R mis40--------
    rs289402721,2,4
    C,FCohen syndrome (COH1)4 pathogenic1101118694(+) TATCAA/GTGAAT 4 N S mis12Minor allele frequency- G:0.00NA EU 5857
    rs1801773661,2
    Cuntested1101016000(+) TACAGA/GTCTGT 2 -- spd10--------
    VAR_0587564
    ----see VAR_0587562 Y C mis40--------
    VAR_0694294
    ----see VAR_0694292 V I mis40--------

    HapMap Linkage Disequilibrium report for VPS13B (100025494 - 100275494 bp, first 250kb of VPS13B)

    Structural Variations
         Database of Genomic Variants (DGV) 10/42 variations for VPS13B (see all 42):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659434CNV Deletion23128226
    esv2677833CNV Deletion23128226
    esv2471268CNV Deletion19546169
    esv2737356CNV Deletion23290073
    esv2737355CNV Deletion23290073
    esv2657142CNV Deletion23128226
    esv1158340CNV Deletion17803354
    esv2737354CNV Deletion23290073
    esv2737353CNV Deletion23290073
    esv2664964CNV Deletion23128226


    Human Gene Mutation Database (HGMD): VPS13B
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing VPS13B:
    Birth Defects
    SeqTarget long-range PCR primers for resequencing VPS13B
    DNA2.0 Custom Variant and Variant Library Synthesis for VPS13B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607817   
    OMIM disorders: 216550  
    UniProtKB/Swiss-Prot: VP13B_HUMAN, Q7Z7G8
  • Cohen syndrome (COH1) [MIM:216550]: A rare autosomal recessive disorder characterized by obesity,
    hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet.
    Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low
    hairline. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for VPS13B:    About MalaCards
    cohen syndrome    cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness    corneal ectasia    microcephaly
    myopia    fundus dystrophy    short stature    neutropenia
    hypotonia    intellectual disability    mental retardation    obesity
    melanoma    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for VPS13B:
    Microcephaly     Neutropenia

    VPS13B for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for VPS13B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cohen syndrome 98 22 19533689 (4), 15154116 (3), 18655112 (2), 12730828 (2) (see all 8)
    microcephaly 86.2 2 18655112 (1), 15211651 (1)
    myopia 71.5 2 18655112 (1), 15211651 (1)
    mental retardation 61.7 2 18655112 (1), 15211651 (1)
    short stature 60.9 1 18655112 (1)
    developmental delay 51.3 1 15211651 (1)

    GeneTests: VPS13B
    GeneReviews: VPS13B
    Genetic Association Database (GAD): VPS13B
    Human Genome Epidemiology (HuGE) Navigator: VPS13B (5 documents)

    Export disorders for VPS13B 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)
    About This Section

    PubMed articles for VPS13B gene, integrated from 9 sources (see all 40):
    (articles sorted by number of sources associating them with VPS13B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of the human VPS13 gene family. (PubMed id 15498460)1, 2, 3, 9 Velayos-Baeza A....Monaco A.P. (2004)
    2. Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. (PubMed id 15154116)1, 2, 9 Hennies H.C....Horn D. (2004)
    3. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. (PubMed id 12730828)1, 2, 9 Kolehmainen J.... Lehesjoki A.-E. (2003)
    4. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. (PubMed id 7920642)1, 3, 9 Tahvanainen E....de la Chapelle A. (1994)
    5. Genome-wide copy number variation association study s uggested VPS13B gene for osteoporosis in Caucasians. (PubMed id 19680589)1, 4 Deng F.Y....Deng H.W. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PubMed id 19320733)1, 4 Fernandez L.P....Ribas G. (2009)
    8. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. (PubMed id 19006247)1, 2 Seifert W.... Horn D. (2009)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. (PubMed id 15141358)1, 2 Kolehmainen J....Manson F.D. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 157680 HGNC: 2183 AceView: COH1 Ensembl:ENSG00000132549 euGenes: HUgn157680
    ECgene: VPS13B H-InvDB: VPS13B

    (According to HUGE)
    About This Section
    HUGE: KIAA0532

    (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 VPS13B Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VPS13B

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for VPS13B gene:
    Search GeneIP for patents involving VPS13B

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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