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

Gene ID: 1794, updated on 7-Dec-2018

Summary

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
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

Genomic context

See DOCK2 in Genome Data Viewer
Location:
5q35.1
Exon count:
59
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (169637247..170083382)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (169064251..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 spindle apparatus coiled-coil protein 1 Neighboring gene inhibitory synaptic factor family member 2B Neighboring gene microRNA 378e Neighboring gene keratin 18 pseudogene 41 Neighboring gene forkhead box I1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Immunodeficiency 40
MedGen: C4225328 OMIM: 616433 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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 BioSystems

  • Chemokine signaling pathway, organism-specific biosystem (from KEGG)
    Chemokine signaling pathway, organism-specific biosystemInflammatory immune response requires the recruitment of leukocytes to the site of inflammation upon foreign insult. Chemokines are small chemoattractant peptides that provide directional cues for th...
  • Chemokine signaling pathway, conserved biosystem (from KEGG)
    Chemokine signaling pathway, conserved biosystemInflammatory immune response requires the recruitment of leukocytes to the site of inflammation upon foreign insult. Chemokines are small chemoattractant peptides that provide directional cues for th...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Fc gamma R-mediated phagocytosis, organism-specific biosystem (from KEGG)
    Fc gamma R-mediated phagocytosis, organism-specific biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
  • Fc gamma R-mediated phagocytosis, conserved biosystem (from KEGG)
    Fc gamma R-mediated phagocytosis, conserved biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
  • HIV Infection, organism-specific biosystem (from REACTOME)
    HIV Infection, organism-specific biosystemThe global pandemic of Human Immunodeficiency Virus (HIV) infection has resulted in tens of millions of people infected by the virus and millions more affected. UNAIDS estimates around 40 million ...
  • 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...
  • Host Interactions of HIV factors, organism-specific biosystem (from REACTOME)
    Host Interactions of HIV factors, organism-specific biosystemLike all viruses, HIV-1 must co-opt the host cell macromolecular transport and processing machinery. HIV-1 Vpr and Rev proteins play key roles in this co-optation. Efficient HIV-1 replication likewis...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Nef and signal transduction, organism-specific biosystem (from REACTOME)
    Nef and signal transduction, organism-specific biosystemNef interferes with cellular signal transduction pathways in a number of ways. Nef is associated with lipid rafts through its amino-terminal myristoylation and a proline-rich SH3-binding domain. Thes...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Regulation of RAC1 activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of RAC1 activity, organism-specific biosystem
    Regulation of RAC1 activity
  • The role of Nef in HIV-1 replication and disease pathogenesis, organism-specific biosystem (from REACTOME)
    The role of Nef in HIV-1 replication and disease pathogenesis, organism-specific biosystemThe HIV-1 Nef protein is a 27-kDa myristoylated protein that is abundantly produced during the early phase of viral replication cycle. It is highly conserved in all primate lentiviruses, suggesting t...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46592, KIAA0209

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_004946.3NP_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
    Q92608
    UniProtKB/TrEMBL
    Q5XG91
    Related
    ENSP00000256935.8, ENST00000256935.12
    Conserved Domains (4) summary
    cd11706
    Location:12001620
    DHR2_DOCK2; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 2
    cd12050
    Location:1267
    SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
    pfam16172
    Location:71414
    DOCK_N; DOCK N-terminus
    cl14603
    Location:422617
    C2; C2 domain

RNA

  1. NR_156756.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK128449, BC084556, BC104900, BC113457, BC143358, DB145764

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    169637247..170083382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534449.2XP_011532751.1  dedicator of cytokinesis protein 2 isoform X3

    Conserved Domains (3) summary
    cd12050
    Location:1267
    SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
    pfam16172
    Location:71414
    DOCK_N; DOCK N-terminus
    cl14603
    Location:422617
    C2; C2 domain
  2. XM_017009190.2XP_016864679.1  dedicator of cytokinesis protein 2 isoform X5

  3. XM_011534451.2XP_011532753.1  dedicator of cytokinesis protein 2 isoform X6

    Conserved Domains (3) summary
    cd12050
    Location:1267
    SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
    pfam16172
    Location:71414
    DOCK_N; DOCK N-terminus
    cl14603
    Location:422617
    C2; C2 domain
  4. XM_011534450.2XP_011532752.1  dedicator of cytokinesis protein 2 isoform X4

    Conserved Domains (3) summary
    cd12050
    Location:1267
    SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
    pfam16172
    Location:71414
    DOCK_N; DOCK N-terminus
    cl14603
    Location:422617
    C2; C2 domain
  5. XM_017009189.1XP_016864678.1  dedicator of cytokinesis protein 2 isoform X1

  6. XM_011534448.2XP_011532750.1  dedicator of cytokinesis protein 2 isoform X2

    Conserved Domains (3) summary
    cd12050
    Location:1267
    SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
    pfam16172
    Location:71414
    DOCK_N; DOCK N-terminus
    cl14603
    Location:422617
    C2; C2 domain
  7. XM_005265830.4XP_005265887.1  dedicator of cytokinesis protein 2 isoform X7

    Related
    ENSP00000428850.1, ENST00000524185.5
    Conserved Domains (3) summary
    cd12050
    Location:1267
    SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
    pfam16172
    Location:71414
    DOCK_N; DOCK N-terminus
    cl14603
    Location:422617
    C2; C2 domain
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