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DOK6 docking protein 6 [ Homo sapiens (human) ]

Gene ID: 220164, updated on 14-Nov-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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See DOK6 in Genome Data Viewer
Location:
18q22.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (69400888..69849087)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (69617516..70065867)
RS_2024_09 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 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, Free PMC Article
  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)

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 cell surface receptor protein tyrosine kinase signaling pathway 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_2024_08

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

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