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    DOCK6 dedicator of cytokinesis 6 [ Homo sapiens (human) ]

    Gene ID: 57572, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DOCK6provided by HGNC
    Official Full Name
    dedicator of cytokinesis 6provided by HGNC
    Primary source
    HGNC:HGNC:19189
    See related
    Ensembl:ENSG00000130158 MIM:614194; AllianceGenome:HGNC:19189
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AOS2; ZIR1
    Summary
    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]
    Expression
    Ubiquitous expression in fat (RPKM 16.5), lung (RPKM 12.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DOCK6 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11199295..11262524, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11326296..11389499, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11309971..11373200, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10101 Neighboring gene SPC24 component of NDC80 kinetochore complex Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11276922-11277422 Neighboring gene KN motif and ankyrin repeat domains 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11300095-11300596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11300597-11301096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10103 Neighboring gene DOCK6 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11347000-11347810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11347811-11348621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11354157-11354967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11363424-11364392 Neighboring gene angiopoietin like 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11364393-11365361 Neighboring gene Sharpr-MPRA regulatory region 11176 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11367378-11367534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10106 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:11408869-11409370 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:11409371-11409870 Neighboring gene tetraspanin 16 Neighboring gene uncharacterized HSPC102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10107 Neighboring gene RAB3D, member RAS oncogene family

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator. Cerikan B, et al. Dev Cell, 2016 Oct 10. PMID 27693507
    2. Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2. Wang Z, et al. Gene, 2019 Jun 5. PMID 30898718
    3. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Shaheen R, et al. Am J Hum Genet, 2011 Aug 12. PMID 21820096, Free PMC Article
    4. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Sukalo M, et al. Hum Mutat, 2015 Jun. PMID 25824905
    5. miR-142-3p Is a Regulator of the TGFβ-Mediated Vascular Smooth Muscle Cell Phenotype. Kim K, et al. J Cell Biochem, 2015 Oct. PMID 25832008

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Associations of ANGPTL6, DOCK6, FABP1, and PCSK9 single-nucleotide variants with hypercholesterolemia in the Polish population: a cross-sectional study.
      Title: Associations of ANGPTL6, DOCK6, FABP1, and PCSK9 single-nucleotide variants with hypercholesterolemia in the Polish population: a cross-sectional study.
    2. Attenuated clinical and osteoclastic phenotypes of Paget's disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene.
      Title: Attenuated clinical and osteoclastic phenotypes of Paget's disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene.
    3. Overexpression of DOCK6 in oral squamous cell cancer promotes cellular migration and invasion and is associated with poor prognosis.
      Title: Overexpression of DOCK6 in oral squamous cell cancer promotes cellular migration and invasion and is associated with poor prognosis.
    4. Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
      Title: Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
    5. DOCK6 localizes to the endoplasmic reticulum (ER) in dependence of its DHR-1 domain.
      Title: Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases.
    6. Results identified c.4106rC and c.3063 C>G mutations in the DOCK6 gene in a 5-year-old Chinese girl with the phenotype of Adams-Oliver syndrome (AOS). When caused by mutations in the DOCK6 gene, the AOS inheritance pattern is autosomal recessive. The two mutations carried by the patient were inherited from the father and mother respectively, generating compound heterozygosity in the patient.
      Title: Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.
    7. Dock6 was over-expressed in GC tissues, and its positive expression was associated with GC metastasis and indicated poor prognosis of GC patients.
      Title: miR-148b-3p inhibits gastric cancer metastasis by inhibiting the Dock6/Rac1/Cdc42 axis.
    8. acute knockdown of the Adams-Oliver syndrome (AOS) gene DOCK6, coding for a RAC1/CDC42 guanine nucleotide exchange factor, results in strikingly different phenotypes to those generated by genomic DOCK6 disruption.
      Title: Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator.
    9. this study demonstrates that miR-142-3p is a key regulator of the TGFbeta-mediated contractile phenotype of VSMCs that acts through inhibiting cell migration through targeting DOCK6.
      Title: miR-142-3p Is a Regulator of the TGFβ-Mediated Vascular Smooth Muscle Cell Phenotype.
    10. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies
      Title: DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Adams-Oliver syndrome 2
    MedGen: C3280182 OMIM: 614219 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    EBI GWAS Catalog
    Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
    EBI GWAS Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dedicator of cytokinesis protein 6

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031953.1 RefSeqGene

      Range
      4969..68198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001367830.1 → NP_001354759.1  dedicator of cytokinesis protein 6 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011472
      Consensus CDS
      CCDS92518.1
      UniProtKB/TrEMBL
      A0A2X0TVX1, K7ESB7
      Related
      ENSP00000468638.2, ENST00000587656.6

    2. NM_020812.4 → NP_065863.2  dedicator of cytokinesis protein 6 isoform 1

      See identical proteins and their annotated locations for NP_065863.2

      Status: REVIEWED

      Source sequence(s)
      AB037816, AC011472, AK316063, BC008335, CV571923, CX759906, DC333132
      Consensus CDS
      CCDS45975.1
      UniProtKB/Swiss-Prot
      A6H8X5, Q7Z7P4, Q96HP0, Q9P2F2
      UniProtKB/TrEMBL
      A0A2X0TVX1
      Related
      ENSP00000294618.6, ENST00000294618.12
      Conserved Domains (3) summary
      cd08696
      Location:547 → 724
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11702
      Location:1592 → 2014
      DHR2_DOCK6; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 6
      pfam11878
      Location:65 → 155
      DUF3398; Domain of unknown function (DUF3398)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      11199295..11262524 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439124.1 → XP_047295080.1  dedicator of cytokinesis protein 6 isoform X3

    2. XM_005260000.3 → XP_005260057.1  dedicator of cytokinesis protein 6 isoform X9

      UniProtKB/TrEMBL
      A0A2X0TVX1
      Conserved Domains (3) summary
      cd08696
      Location:547 → 724
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11702
      Location:1658 → 2080
      DHR2_DOCK6; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 6
      pfam11878
      Location:65 → 155
      DUF3398; Domain of unknown function (DUF3398)

    3. XM_011528152.2 → XP_011526454.1  dedicator of cytokinesis protein 6 isoform X4

      UniProtKB/TrEMBL
      A0A2X0TVX1
      Conserved Domains (3) summary
      cd08696
      Location:558 → 735
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11702
      Location:1603 → 2025
      DHR2_DOCK6; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 6
      pfam11878
      Location:65 → 155
      DUF3398; Domain of unknown function (DUF3398)

    4. XM_011528151.2 → XP_011526453.1  dedicator of cytokinesis protein 6 isoform X2

      UniProtKB/TrEMBL
      A0A2X0TVX1
      Conserved Domains (3) summary
      cd08696
      Location:558 → 735
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11702
      Location:1634 → 2056
      DHR2_DOCK6; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 6
      pfam11878
      Location:65 → 155
      DUF3398; Domain of unknown function (DUF3398)

    5. XM_011528150.2 → XP_011526452.1  dedicator of cytokinesis protein 6 isoform X1

      UniProtKB/TrEMBL
      A0A2X0TVX1
      Conserved Domains (3) summary
      cd08696
      Location:558 → 735
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11702
      Location:1638 → 2060
      DHR2_DOCK6; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 6
      pfam11878
      Location:65 → 155
      DUF3398; Domain of unknown function (DUF3398)

    6. XM_006722804.4 → XP_006722867.1  dedicator of cytokinesis protein 6 isoform X5

      UniProtKB/TrEMBL
      B4DIL4
      Conserved Domains (1) summary
      cd11702
      Location:704 → 1126
      DHR2_DOCK6; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 6

    7. XM_047439125.1 → XP_047295081.1  dedicator of cytokinesis protein 6 isoform X6

    8. XM_047439127.1 → XP_047295083.1  dedicator of cytokinesis protein 6 isoform X8

    9. XM_047439126.1 → XP_047295082.1  dedicator of cytokinesis protein 6 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      11326296..11389499 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321534.1 → XP_054177509.1  dedicator of cytokinesis protein 6 isoform X3

    2. XM_054321540.1 → XP_054177515.1  dedicator of cytokinesis protein 6 isoform X9

    3. XM_054321535.1 → XP_054177510.1  dedicator of cytokinesis protein 6 isoform X4

    4. XM_054321533.1 → XP_054177508.1  dedicator of cytokinesis protein 6 isoform X2

    5. XM_054321532.1 → XP_054177507.1  dedicator of cytokinesis protein 6 isoform X1

    6. XM_054321536.1 → XP_054177511.1  dedicator of cytokinesis protein 6 isoform X5

    7. XM_054321537.1 → XP_054177512.1  dedicator of cytokinesis protein 6 isoform X6

    8. XM_054321539.1 → XP_054177514.1  dedicator of cytokinesis protein 6 isoform X8

    9. XM_054321538.1 → XP_054177513.1  dedicator of cytokinesis protein 6 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HP0.3 GenPept UniProtKB/Swiss-Prot:Q96HP0

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