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    DOK6 docking protein 6 [ Homo sapiens (human) ]

    Gene ID: 220164, updated on 11-Apr-2024

    Summary

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    Official Symbol
    DOK6provided by HGNC
    Official Full Name
    docking protein 6provided by HGNC
    Primary source
    HGNC:HGNC:28301
    See related
    Ensembl:ENSG00000206052 MIM:611402; AllianceGenome:HGNC:28301
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DOK5L; HsT3226
    Summary
    DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in brain (RPKM 6.3), kidney (RPKM 1.5) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    18q22.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (69400888..69849087)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (69617516..70065867)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (67068124..67516323)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985134 Neighboring gene uncharacterized LOC107985136 Neighboring gene uncharacterized LOC105372179 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:67373070-67373873 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_49392 Neighboring gene uncharacterized LOC107985138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:67506461-67506962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13475 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:67602408-67603607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13479 Neighboring gene CD226 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13481 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:67714790-67715989 Neighboring gene Sharpr-MPRA regulatory region 7597 Neighboring gene rotatin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13484

    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. Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children. Lan C, et al. J Cell Mol Med, 2021 Oct. PMID 34545688, Free PMC Article
    2. Analysis of DOK-6 function in downstream signaling of RET in human neuroblastoma cells. Kurotsuchi A, et al. Cancer Sci, 2010 May. PMID 20210798
    3. Dok-6, a Novel p62 Dok family member, promotes Ret-mediated neurite outgrowth. Crowder RJ, et al. J Biol Chem, 2004 Oct 1. PMID 15286081
    4. Downstream of tyrosine kinase/docking protein 6, as a novel substrate of tropomyosin-related kinase C receptor, is involved in neurotrophin 3-mediated neurite outgrowth in mouse cortex neurons. Li Wq, et al. BMC Biol, 2010 Jun 18. PMID 20565848, Free PMC Article
    5. An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. Hsu YH, et al. PLoS Genet, 2010 Jun 10. PMID 20548944, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.
      Title: Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.
    2. DOK-6 is involved in RET signaling with less influence when compared with DOK-1, DOK-4, and SHC.
      Title: Analysis of DOK-6 function in downstream signaling of RET in human neuroblastoma cells.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Dok-6 binds to the phosphorylated Ret Tyr(1062) residue resulting in phosphorylation of tyrosine residue(s) located within the unique C terminus of Dok-6 predominantly through a Src-dependent mechanism
      Title: Dok-6, a Novel p62 Dok family member, promotes Ret-mediated neurite outgrowth.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.
    EBI GWAS Catalog
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    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)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of docking protein 6 (DOK6) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Clone Names

    • MGC20785

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    docking protein 6
    Names
    downstream of tyrosine kinase 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.

    mRNA and Protein(s)

    1. NM_152721.6 → NP_689934.2  docking protein 6

      See identical proteins and their annotated locations for NP_689934.2

      Status: VALIDATED

      Source sequence(s)
      AC026585, AC090231, AY599248, BC008583, BC019045, BX280184, DB480182
      Consensus CDS
      CCDS32841.1
      UniProtKB/Swiss-Prot
      A6NNG3, Q4V9S3, Q6PKX4, Q8WUZ8, Q96HI2, Q96LU2
      Related
      ENSP00000372160.5, ENST00000382713.10
      Conserved Domains (2) summary
      cd13164
      Location:133 → 235
      PTB_DOK4_DOK5_DOK6; Downstream of tyrosine kinase 4, 5, and 6 proteins phosphotyrosine-binding domain (PTBi)
      cd14678
      Location:9 → 113
      PH_DOK4_DOK5_DOK6; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 4, 5, and 6 proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      69400888..69849087
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025610.2 → XP_016881099.1  docking protein 6 isoform X1

      Conserved Domains (1) summary
      cd13164
      Location:25 → 127
      PTB_DOK4_DOK5_DOK6; Downstream of tyrosine kinase 4, 5, and 6 proteins phosphotyrosine-binding domain (PTBi)

    2. XM_017025611.2 → XP_016881100.1  docking protein 6 isoform X1

      Conserved Domains (1) summary
      cd13164
      Location:25 → 127
      PTB_DOK4_DOK5_DOK6; Downstream of tyrosine kinase 4, 5, and 6 proteins phosphotyrosine-binding domain (PTBi)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      69617516..70065867
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318282.1 → XP_054174257.1  docking protein 6 isoform X1

    2. XM_054318283.1 → XP_054174258.1  docking protein 6 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PKX4.1 GenPept UniProtKB/Swiss-Prot:Q6PKX4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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