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    DOCK2 dedicator of cytokinesis 2 [ Homo sapiens (human) ]

    Gene ID: 1794, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DOCK2provided by HGNC
    Official Full Name
    dedicator of cytokinesis 2provided by HGNC
    Primary source
    HGNC:HGNC:2988
    See related
    Ensembl:ENSG00000134516 MIM:603122; AllianceGenome:HGNC:2988
    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
    IMD40
    Summary
    The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. Mutations in this gene result in immunodeficiency 40 (IMD40), a combined form of immunodeficiency that affects T cell number and function, also with variable defects in B cell and NK cell function. [provided by RefSeq, May 2018]
    Expression
    Broad expression in lymph node (RPKM 13.3), bone marrow (RPKM 11.2) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DOCK2 in Genome Data Viewer
    Location:
    5q35.1
    Exon count:
    59
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (169637275..170083382)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (170172648..170621822)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (169064279..169510386)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377714 Neighboring gene uncharacterized LOC105377715 Neighboring gene RNA, U6 small nuclear 477, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:169010404-169011404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23593 Neighboring gene spindle apparatus coiled-coil protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23596 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:169122482-169123681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23601 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:169235189-169235766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23603 Neighboring gene NANOG hESC enhancer GRCh37_chr5:169334064-169334793 Neighboring gene inhibitory synaptic factor family member 2B Neighboring gene Sharpr-MPRA regulatory region 8772 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:169403516-169404715 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:169407449-169408187 Neighboring gene microRNA 378e Neighboring gene NANOG hESC enhancer GRCh37_chr5:169536441-169536994 Neighboring gene keratin 18 pseudogene 41 Neighboring gene forkhead box I1

    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. DOCK8 deficiency: Insights into pathophysiology, clinical features and management. Biggs CM, et al. Clin Immunol, 2017 Aug. PMID 28625885, Free PMC Article
    2. Dock2 in the development of inflammation and cancer. Chen Y, et al. Eur J Immunol, 2018 Jun. PMID 29509960
    3. Deconvolution of Human Brain Cell Type Transcriptomes Unraveled Microglia-Specific Potential Biomarkers. Ayana R, et al. Front Neurol, 2018. PMID 29755398, Free PMC Article
    4. Overexpression of dedicator of cytokinesis 2 correlates with good prognosis in colorectal cancer associated with more prominent CD8(+) lymphocytes infiltration: a colorectal cancer analysis. Miao S, et al. J Cell Biochem, 2018 Nov. PMID 30076747
    5. Combined analysis of DNA methylation and gene expression profiles of osteosarcoma identified several prognosis signatures. Tian W, et al. Gene, 2018 Apr 15. PMID 29407229

    See all (107) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DOCK2 Promotes Atherosclerosis by Mediating the Endothelial Cell Inflammatory Response.
      Title: DOCK2 Promotes Atherosclerosis by Mediating the Endothelial Cell Inflammatory Response.
    2. DOCK2 Promotes Asthma Development by Eliciting Airway Epithelial-Mesenchymal Transition.
      Title: DOCK2 Promotes Asthma Development by Eliciting Airway Epithelial-Mesenchymal Transition.
    3. Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine.
      Title: Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine.
    4. DOCK2 Deficiency Attenuates Abdominal Aortic Aneurysm Formation-Brief Report.
      Title: DOCK2 Deficiency Attenuates Abdominal Aortic Aneurysm Formation-Brief Report.
    5. Extra-hematopoietic immunomodulatory role of the guanine-exchange factor DOCK2.
      Title: Extra-hematopoietic immunomodulatory role of the guanine-exchange factor DOCK2.
    6. DOCK2 is involved in the host genetics and biology of severe COVID-19.
      Title: DOCK2 is involved in the host genetics and biology of severe COVID-19.
    7. DOCK2 contributes to pulmonary fibrosis by promoting lung fibroblast to myofibroblast transition.
      Title: DOCK2 contributes to pulmonary fibrosis by promoting lung fibroblast to myofibroblast transition.
    8. DOCK2 regulates antifungal immunity by regulating RAC GTPase activity.
      Title: DOCK2 regulates antifungal immunity by regulating RAC GTPase activity.
    9. DOCK2 Promotes Pleural Fibrosis by Modulating Mesothelial to Mesenchymal Transition.
      Title: DOCK2 Promotes Pleural Fibrosis by Modulating Mesothelial to Mesenchymal Transition.
    10. DOCK2 Deficiency Diagnosed 18 Years After Hematopoietic Stem Cell Transplantation.
      Title: DOCK2 Deficiency Diagnosed 18 Years After Hematopoietic Stem Cell Transplantation.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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
    DOCK2 deficiency
    MedGen: C4225328 OMIM: 616433 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    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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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Interaction of HIV-1 Nef with a protein complex, which includes Rac2, DOCK2, and ELMO1, activates Rac activity in T 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

    • FLJ46592, KIAA0209

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables T cell receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in alpha-beta T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chemotaxis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of T cell polarity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in immunological synapse formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in macropinocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in membrane raft polarization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myeloid dendritic cell activation involved in immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in myoblast fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative thymic T cell selection IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of phagocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive thymic T cell selection IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in specific granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    dedicator of cytokinesis protein 2
    Names
    dedicator of cyto-kinesis 2

    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_051800.1 RefSeqGene

      Range
      5029..451136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1227

    mRNA and Protein(s)

    1. NM_004946.3 → NP_004937.1  dedicator of cytokinesis protein 2

      See identical proteins and their annotated locations for NP_004937.1

      Status: REVIEWED

      Source sequence(s)
      AK128449, BC084556, BC104900, BC113457, DB145764
      Consensus CDS
      CCDS4371.1
      UniProtKB/Swiss-Prot
      Q2M3I0, Q92608, Q96AK7
      UniProtKB/TrEMBL
      A0A2X0SFD3
      Related
      ENSP00000429283.3, ENST00000520908.7
      Conserved Domains (4) summary
      cd11706
      Location:1200 → 1620
      DHR2_DOCK2; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 2
      cd12050
      Location:12 → 67
      SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
      pfam16172
      Location:71 → 414
      DOCK_N; DOCK N-terminus
      cl14603
      Location:422 → 617
      C2; C2 domain

    RNA

    1. NR_156756.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK128449, BC084556, BC104900, BC113457, BC143358, DB145764
      Related
      ENST00000524185.5

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      169637275..170083382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534449.3 → XP_011532751.1  dedicator of cytokinesis protein 2 isoform X2

      UniProtKB/TrEMBL
      E5RFJ0, H0YB76
      Related
      ENSP00000428841.2, ENST00000519628.2
      Conserved Domains (3) summary
      cd12050
      Location:12 → 67
      SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
      pfam16172
      Location:71 → 414
      DOCK_N; DOCK N-terminus
      cl14603
      Location:422 → 617
      C2; C2 domain

    2. XM_017009190.3 → XP_016864679.1  dedicator of cytokinesis protein 2 isoform X4

      UniProtKB/TrEMBL
      E5RFJ0

    3. XM_011534451.3 → XP_011532753.1  dedicator of cytokinesis protein 2 isoform X5

      UniProtKB/TrEMBL
      E5RFJ0
      Conserved Domains (3) summary
      cd12050
      Location:12 → 67
      SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
      pfam16172
      Location:71 → 414
      DOCK_N; DOCK N-terminus
      cl14603
      Location:422 → 617
      C2; C2 domain

    4. XM_011534450.3 → XP_011532752.1  dedicator of cytokinesis protein 2 isoform X3

      UniProtKB/TrEMBL
      E5RFJ0
      Conserved Domains (3) summary
      cd12050
      Location:12 → 67
      SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
      pfam16172
      Location:71 → 414
      DOCK_N; DOCK N-terminus
      cl14603
      Location:422 → 617
      C2; C2 domain

    5. XM_011534448.3 → XP_011532750.1  dedicator of cytokinesis protein 2 isoform X1

      UniProtKB/TrEMBL
      E5RFJ0
      Conserved Domains (3) summary
      cd12050
      Location:12 → 67
      SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
      pfam16172
      Location:71 → 414
      DOCK_N; DOCK N-terminus
      cl14603
      Location:422 → 617
      C2; C2 domain

    6. XM_005265830.5 → XP_005265887.1  dedicator of cytokinesis protein 2 isoform X6

      UniProtKB/TrEMBL
      E5RFJ0
      Conserved Domains (3) summary
      cd12050
      Location:12 → 67
      SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
      pfam16172
      Location:71 → 414
      DOCK_N; DOCK N-terminus
      cl14603
      Location:422 → 617
      C2; C2 domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      170172648..170621822
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351951.1 → XP_054207926.1  dedicator of cytokinesis protein 2 isoform X2

      UniProtKB/TrEMBL
      H0YB76

    2. XM_054351953.1 → XP_054207928.1  dedicator of cytokinesis protein 2 isoform X4

    3. XM_054351954.1 → XP_054207929.1  dedicator of cytokinesis protein 2 isoform X5

    4. XM_054351952.1 → XP_054207927.1  dedicator of cytokinesis protein 2 isoform X3

    5. XM_054351950.1 → XP_054207925.1  dedicator of cytokinesis protein 2 isoform X1

    6. XM_054351955.1 → XP_054207930.1  dedicator of cytokinesis protein 2 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92608.2 GenPept UniProtKB/Swiss-Prot:Q92608

    Gene LinkOut

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

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