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

Gene ID: 1794, updated on 6-Jul-2026
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
all
Try the new Gene page
Try the new Transcripts and proteins table
See DOCK2 in Genome Data Viewer
Location:
5q35.1
Exon count:
59
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (169637275..170083382)
RS_2025_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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. DOCK2 Deficiency Diagnosed 18 Years After Hematopoietic Stem Cell Transplantation. D'Astous-Gauthier K, et al. J Clin Immunol, 2021 Aug. PMID 33928462
  2. Dock-family exchange factors in cell migration and disease. Gadea G, et al. Eur J Cell Biol, 2014 Oct. PMID 25022758
  3. Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction. Moens L, et al. J Clin Immunol, 2019 Apr. PMID 30838481, 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. Deconvolution of Human Brain Cell Type Transcriptomes Unraveled Microglia-Specific Potential Biomarkers. Ayana R, et al. Front Neurol, 2018. PMID 29755398, Free PMC Article

See all (111) 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)

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

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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

Products Interactant Other Gene Complex Source Pubs Description

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 IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in actin cytoskeleton organization TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in macropinocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in macropinocytosis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in myeloid dendritic cell activation involved in immune response 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 positive regulation of phagocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of phagocytosis ISS
Inferred from Sequence or Structural Similarity
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 endomembrane system IEA
Inferred from Electronic Annotation
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
  
Preferred Names
dedicator of cytokinesis protein 2
Names
dedicator of cyto-kinesis 2

NEW Try the new Transcript table

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
    A0ACI8V9N4
    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_2025_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
    E5RFJ0, H0YB76

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

    UniProtKB/TrEMBL
    E5RFJ0

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

    UniProtKB/TrEMBL
    E5RFJ0

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

    UniProtKB/TrEMBL
    E5RFJ0

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

    UniProtKB/TrEMBL
    E5RFJ0

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

    UniProtKB/TrEMBL
    E5RFJ0
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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