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    DOK2 docking protein 2 [ Homo sapiens (human) ]

    Gene ID: 9046, updated on 9-Jul-2017
    Official Symbol
    DOK2provided by HGNC
    Official Full Name
    docking protein 2provided by HGNC
    Primary source
    HGNC:HGNC:2991
    See related
    Ensembl:ENSG00000147443 MIM:604997; Vega:OTTHUMG00000131075
    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
    p56DOK; p56dok-2
    Summary
    The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    8p21.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (21908873..21913717, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21766384..21771290, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379318 Neighboring gene uncharacterized LOC107986923 Neighboring gene exportin 7 Neighboring gene nucleophosmin/nucleoplasmin 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study suggests an association of Chr8p21.3 (GFRA2) with diabetic neuropathic pain.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    NHGRI GWA Catalog
    • Angiopoietin receptor Tie2-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
      Angiopoietin receptor Tie2-mediated signaling, organism-specific biosystem
      Angiopoietin receptor Tie2-mediated signaling
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
      Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • IL-4 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-4 Signaling Pathway, organism-specific biosystemIL-4 is a glycoprotein which is composed of 129 amino acids and has a molecular weight of 20kDa. IL-4 and IL-13 are produced by CD4+ cells and exhibit significant functional overlap. Both these cytok...
    • IL2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL2-mediated signaling events, organism-specific biosystem
      IL2-mediated signaling events
    • IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL4-mediated signaling events, organism-specific biosystem
      IL4-mediated signaling events
    • RET signaling, organism-specific biosystem (from REACTOME)
      RET signaling, organism-specific biosystemThe RET proto-oncogene encodes a receptor tyrosine kinase expressed primarily in urogenital precursor cells, spermatogonocytes, dopaminergic neurons, motor neurons and neural crest progenitors and de...
    • Rac1/Pak1/p38/MMP-2 pathway, organism-specific biosystem (from WikiPathways)
      Rac1/Pak1/p38/MMP-2 pathway, organism-specific biosystemRac1/p38 pathway from Ingenuity Pathway Analysis.
    • Tie2 Signaling, organism-specific biosystem (from REACTOME)
      Tie2 Signaling, organism-specific biosystemThe Tie2/Tek receptor tyrosine kinase plays a pivotal role in vascular and hematopoietic development and is expressed exclusively on endothelial lineage. Tie2 interacts with a group of ligands belong...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    insulin receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signal transducer activity, downstream of receptor IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane receptor protein tyrosine kinase adaptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Ras protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    axon guidance TAS
    Traceable Author Statement
    more info
     
    cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    docking protein 2
    Names
    docking protein 2, 56kD
    docking protein 2, 56kDa
    downstream of tyrosine kinase 2
    p56(dok-2)

    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_001317800.1NP_001304729.1  docking protein 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform 1. Both variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AK226110, DC295259
      Conserved Domains (1) summary
      cd01203
      Location:192
      PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)
    2. NM_003974.3NP_003965.2  docking protein 2 isoform a

      See identical proteins and their annotated locations for NP_003965.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK226110, BC032623, DC295259
      Consensus CDS
      CCDS6016.1
      UniProtKB/Swiss-Prot
      O60496
      Related
      ENSP00000276420.4, OTTHUMP00000161710, ENST00000276420.8, OTTHUMT00000253735
      Conserved Domains (3) summary
      cd01203
      Location:147246
      PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)
      cd14676
      Location:7114
      PH_DOK1,2,3; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 1, 2, and 3
      pfam00169
      Location:6110
      PH; PH domain
    3. NM_201349.2NP_958728.1  docking protein 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform 1. Both variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AK226110, AK296671, DC295259
      UniProtKB/TrEMBL
      B4DKQ6
      Conserved Domains (1) summary
      cd01203
      Location:192
      PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      21908873..21913717 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273680.4XP_005273737.1  docking protein 2 isoform X1

      Conserved Domains (2) summary
      cd01203
      Location:53152
      PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)
      cl17171
      Location:725
      PH-like; Pleckstrin homology-like domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      21968112..21972947 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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