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

DOCK6 Gene

protein-coding   GIFtS: 58
GCID: GC19M011309

Dedicator Of Cytokinesis 6

  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
Dedicator Of Cytokinesis 61 2
AOS22
ZIR12
Dedicator Of Cytokinesis Protein 62
KIAA13953

External Ids:    HGNC: 191891   Entrez Gene: 575722   Ensembl: ENSG000001301587   OMIM: 6141945   UniProtKB: Q96HP03   

Export aliases for DOCK6 gene to outside databases

Previous GC identifers: GC19U900290 GC19M011171 GC19M011172 GC19M010887


(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 DOCK6 Gene:
This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange
factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular
signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal
reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with
Adams-Oliver syndrome 2. (provided by RefSeq, Dec 2011)

GeneCards Summary for DOCK6 Gene: 
DOCK6 (dedicator of cytokinesis 6) is a protein-coding gene. Diseases associated with DOCK6 include oliver syndrome, and pilomyxoid astrocytoma, and among its related super-pathways are G-protein signaling Regulation of CDC42 activity and Platelet activation, signaling and aggregation. GO annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK9.

UniProtKB/Swiss-Prot: DOCK6_HUMAN, Q96HP0
Function: Acts as guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its
activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity)

Gene Wiki entry for DOCK6 (Dock6) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DOCK6 gene promoter:
         Bach1   Max1   Tal-1   RREB-1   MyoD   AP-4   NF-kappaB   E47   C/EBPalpha   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DOCK6 promoter sequence
   Search SABiosciences Chromatin IP Primers for DOCK6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DOCK6


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

DOCK6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DOCK6 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M011309:  view genomic region     (about GC identifiers)

Start:
11,309,971 bp from pter      End:
11,373,157 bp from pter
Size:
63,187 bases      Orientation:
minus 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: DOCK6_HUMAN, Q96HP0 (See protein sequence)
Recommended Name: Dedicator of cytokinesis protein 6  
Size: 2047 amino acids; 229558 Da
Subcellular location: Cytoplasm. Cytoplasm, perinuclear region. Note=Mainly located near the cell surface
Sequence caution: Sequence=AAH08335.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA92633.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6H8X5 Q7Z7P4 Q9P2F2

Explore the universe of human proteins at neXtProt for DOCK6: NX_Q96HP0

Explore proteomics data for DOCK6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96HP0

  • DOCK6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DOCK6 Protein Expression
    REFSEQ proteins: NP_065863.2  
    ENSEMBL proteins: 
     ENSP00000294618   ENSP00000468291   ENSP00000468638   ENSP00000467231   ENSP00000467191  
     ENSP00000465767   ENSP00000321556  
    Reactome Protein details: Q96HP0
    Human Recombinant Protein Products for DOCK6: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for DOCK6
    GenScript Custom Purified and Recombinant Proteins Services for DOCK6
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DOCK6 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0048471perinuclear region of cytoplasm IEA--

    DOCK6 for ontologies           About GeneDecksing



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    Assay Products for DOCK6: 
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    Cloud-Clone Corp. ELISAs for DOCK6 
    Cloud-Clone Corp. CLIAs for DOCK6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR021816 DOCK_C/D_N
     IPR027007 DHR-1_domain
     IPR026791 DOCK
     IPR027357 DHR-2
     IPR010703 DOCK_C

    Graphical View of Domain Structure for InterPro Entry Q96HP0

    ProtoNet protein and cluster: Q96HP0

    1 Blocks protein domain: IPB010703 Dedicator of cytokinesis

    UniProtKB/Swiss-Prot: DOCK6_HUMAN, Q96HP0
    Domain: The DHR-2 domain may mediate some GEF activity (By similarity)
    Similarity: Belongs to the DOCK family
    Similarity: Contains 1 DHR-1 domain
    Similarity: Contains 1 DHR-2 domain


    DOCK6 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: DOCK6_HUMAN, Q96HP0
    Function: Acts as guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its
    activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IEA--
         
    DOCK6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DOCK6:
     Stronger migration 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DOCK6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DOCK6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DOCK6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DOCK6 

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate DOCK6:
    hsa-miR-152 hsa-miR-148b hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidDOCK6 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: DOCK6 (NM_020812)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOCK6


    (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

    SuperPaths for DOCK6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1G-protein signaling Regulation of CDC42 activity
    G-protein signaling Regulation of CDC42 activity1.00
    2Platelet activation, signaling and aggregation
    Hemostasis0.43
    3Regulation of CDC42 activity
    Regulation of CDC42 activity
    4Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production
    5Regulation of RAC1 activity
    Regulation of RAC1 activity

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for DOCK6
        G-protein signaling Regulation of CDC42 activity


    1 GeneGo (Thomson Reuters) Pathway for DOCK6
        G-protein signaling Regulation of CDC42 activity

    2 BioSystems Pathways for DOCK6
        Regulation of CDC42 activity
    Regulation of RAC1 activity

    2        Reactome Pathways for DOCK6
        Hemostasis
    Factors involved in megakaryocyte development and platelet production



    DOCK6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DOCK6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for DOCK6 (Q96HP03 ENSP000002946184) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TADA2AO754783, ENSP000002253964I2D: score=1 STRING: ENSP00000225396
    CDC42ENSP000003144584STRING: ENSP00000314458
    DOCK11ENSP000002762024STRING: ENSP00000276202
    DOCK9ENSP000003656434STRING: ENSP00000365643
    RAC1ENSP000003484614STRING: ENSP00000348461
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0007596blood coagulation TAS--

    DOCK6 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 DOCK6

    3 HMDB Compounds for DOCK6    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about DOCK6

    (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 DOCK6 gene: 
    NM_020812.3  

    Unigene Cluster for DOCK6:

    Dedicator of cytokinesis 6
    Hs.591002  [show with all ESTs]
    Unigene Representative Sequence: NM_020812
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000586702 ENST00000294618(uc002mqs.4) ENST00000587734 ENST00000587656
    ENST00000588666 ENST00000592463 ENST00000588429 ENST00000592403 ENST00000592550
    ENST00000590680 ENST00000590452 ENST00000585904 ENST00000591750 ENST00000585609
    ENST00000586482 ENST00000587572 ENST00000319867(uc002mqr.4 uc010xlq.2)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOCK6
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate DOCK6:
    hsa-miR-152 hsa-miR-148b hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidDOCK6 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DOCK6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOCK6
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DOCK6 (NM_020812)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DOCK6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOCK6
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DOCK6
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOCK6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOCK6

    Additional mRNA sequence: 

    AB037816.2 AK295664.1 AK316063.1 AY927481.1 AY927545.1 AY927568.1 BC008335.1 BC051330.1 
    BC146786.1 

    13 DOTS entries:

    DT.454372  DT.75184777  DT.121410694  DT.100773530  DT.91764418  DT.100781397  DT.92010881  DT.95201596 
    DT.97773588  DT.97802306  DT.121410681  DT.75199149  DT.97794197 

    24/217 AceView cDNA sequences (see all 217):

    BC051330 AI660050 BM853831 AA534504 AI677957 BM988042 BU856964 AA653085 
    BM023316 BG150349 AI198543 AI891034 BX281653 BQ003217 AW071657 BX282634 
    BI770146 AI368427 BQ007034 BF568737 CB045348 BM981651 AI273413 BM800116 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for DOCK6 (see all 13)    About this scheme

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

    ExUns: 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34a · 34b ^ 35
    SP1:                                                                                                                        
    SP2:                                                                                                                        
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for DOCK6

    (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

    DOCK6 expression in normal human tissues (normalized intensities)      DOCK6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGAAGAAGA
    DOCK6 Expression
    About this image


    DOCK6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Kidney (Urinary System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Lung (Respiratory System)

    See DOCK6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DOCK6

    SOURCE GeneReport for Unigene cluster: Hs.591002

    UniProtKB/Swiss-Prot: DOCK6_HUMAN, Q96HP0
    Tissue specificity: Widely expressed. Expressed at low level in spleen, cerebellum, hippocampus and in substantia
    nigra

        SABiosciences Custom PCR Arrays for DOCK6
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOCK6

    (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.

    Orthologs for DOCK6 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dock61 , 5 dedicator of cytokinesis 61, 5 82.92(n)1
    89.39(a)1
      9 (7.89 cM)5
    3198991  NM_177030.31  NP_796004.21 
     218001845 
    lizard
    (Anolis carolinensis)
    Reptilia DOCK66
    dedicator of cytokinesis 6
    71(a)
    1 ↔ 1
    2(79330025-79462506)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5534591 uncharacterized protein LOC553459 69.25(n)
    72(a)
      553459  XM_002661264.1  XP_002661310.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG113766
    --
    47(a)
    1 → many
    2L(94739-102086)
    worm
    (Caenorhabditis elegans)
    Secernentea F46H5.46
    Protein F46H5.4
    28(a)
    1 → many
    X(7245079-7254792)


    ENSEMBL Gene Tree for DOCK6 (if available)
    TreeFam Gene Tree for DOCK6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DOCK6 gene
    DOCK92  DOCK72  DOCK112  DOCK102  DOCK82  
    8 SIMAP similar genes for DOCK6 using alignment to 7 protein entries:     DOCK6_HUMAN (see all proteins):
    DOCK7    DOCK8    DOCK10    DOCK9    DKFZp686N04132    DRIP2
    Nbla10300    DKFZp781A1532

    DOCK6 for paralogs           About GeneDecksing



    (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

    10/1657 SNPs in DOCK6 are shown (see all 1657)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1481434471,2
    --11246520(+) TTGCCA/GTGAGC 1 -- ds50010--------
    rs735066091,2
    C,F--11246663(+) CCCGGA/GGTTTG 1 -- ds50013Minor allele frequency- G:0.26WA 122
    rs1416019051,2
    --11246717(+) GGGACA/TGAGTG 1 -- ds50010--------
    rs129808631,2
    C,F,A,H--11246892(+) GTGTCC/TCCATT 1 -- ds500123Minor allele frequency- T:0.41NS EA NA WA CSA 2350
    rs1462208101,2
    C--11246974(+) GTGACC/TGCACC 1 -- ds50010--------
    rs1884748861,2
    --11247060(+) ACAGGA/GGCAGA 1 -- ut310--------
    rs1379519071,2
    --11247085(+) GTACAA/GTGTGG 1 -- ut310--------
    rs1423374661,2
    --11247103(+) ACAGCC/TCAGTG 1 -- ut310--------
    rs789422911,2
    C--11247127(+) ACTCCC/TCTCGC 1 -- ut310--------
    rs1396205531,2
    C--11247131(+) CCCTCA/GCAGCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DOCK6 (11309971 - 11373157 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for DOCK6 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718177CNV Deletion23290073
    esv2718174CNV Deletion23290073
    esv2718175CNV Deletion23290073
    esv2718176CNV Deletion23290073
    nsv911061CNV Loss21882294
    nsv522449CNV Loss19592680
    nsv911060CNV Loss21882294
    dgv3730n71CNV Loss21882294
    nsv833752CNV Loss17160897
    nsv523678CNV Loss19592680


    Human Gene Mutation Database (HGMD): DOCK6
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DOCK6
    DNA2.0 Custom Variant and Variant Library Synthesis for DOCK6

    (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
    OMIM gene information: 614194    OMIM disorders: --

    UniProtKB/Swiss-Prot: DOCK6_HUMAN, Q96HP0
  • Adams-Oliver syndrome 2 (AOS2) [MIM:614219]: A disorder characterized by the congenital absence of skin
    (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located
    anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where
    it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb
    truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely,
    metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects,
    syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly
    variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as
    cutis marmorata and dilated scalp veins. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 8 diseases for DOCK6:    About MalaCards
    oliver syndrome    pilomyxoid astrocytoma    aplasia cutis congenita    adams oliver syndrome
    ganglioneuroblastoma    syndactyly    pilocytic astrocytoma    astrocytoma

    3 diseases from the University of Copenhagen DISEASES database for DOCK6:
    Pilomyxoid astrocytoma     Ganglioneuroblastoma     Pilocytic astrocytoma

    DOCK6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DOCK6

    Export disorders for DOCK6 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 DOCK6 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with DOCK6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of an evolutionarily conserved superfamily of DOCK180- related proteins with guanine nucleotide exchange activity. (PubMed id 12432077)1, 2, 3 Cote J.-F. and Vuori K. (2002)
    2. Genome-wide association study of coronary heart disea se and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PubMed id 21347282)1, 4 Lettre G....Boerwinkle E. (2011)
    3. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. (PubMed id 21820096)1, 2 Shaheen R.... Alkuraya F.S. (2011)
    4. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (2010)
    5. Dock6, a Dock-C subfamily guanine nucleotide exchange r, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth. (PubMed id 17196961)1, 2 Miyamoto Y....Tanoue A. (2007)
    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. (2004)
    7. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (2000)
    8. Why do cellular proteins linked to K63-polyubiquitin c hains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (2013)
    9. Genomic study in Mexicans identifies a new locus for t riglycerides and refines European lipid loci. (PubMed id 23505323)1 Weissglas-Volkov D....Pajukanta P. (2013)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57572 HGNC: 19189 AceView: DOCK6 Ensembl:ENSG00000130158 euGenes: HUgn57572
    ECgene: DOCK6 H-InvDB: DOCK6

    (According to HUGE)
    About This Section
    HUGE: KIAA1395

    (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 DOCK6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DOCK6 gene:
    Search GeneIP for patents involving DOCK6

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



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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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