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Aliases for DOCK2 Gene

Aliases for DOCK2 Gene

  • Dedicator Of Cytokinesis 2 2 3 5
  • Dedicator Of Cyto-Kinesis 2 2 3
  • Dedicator Of Cytokinesis Protein 2 3
  • KIAA0209 4
  • IMD40 3

External Ids for DOCK2 Gene

Previous GeneCards Identifiers for DOCK2 Gene

  • GC05P169299
  • GC05P169767
  • GC05P168999
  • GC05P169045
  • GC05P168996
  • GC05P169064
  • GC05P164162

Summaries for DOCK2 Gene

Entrez Gene Summary for DOCK2 Gene

  • 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. [provided by RefSeq, Oct 2016]

GeneCards Summary for DOCK2 Gene

DOCK2 (Dedicator Of Cytokinesis 2) is a Protein Coding gene. Diseases associated with DOCK2 include Immunodeficiency 40 and Dock2 Deficiency. Among its related pathways are Innate Immune System and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK1.

UniProtKB/Swiss-Prot for DOCK2 Gene

  • Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines. Activates RAC1 and RAC2, but not CDC42, by functioning as a guanine nucleotide exchange factor (GEF), which exchanges bound GDP for free GTP. May also participate in IL2 transcriptional activation via the activation of RAC2.

Gene Wiki entry for DOCK2 Gene

Additional gene information for DOCK2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOCK2 Gene

Genomics for DOCK2 Gene

GeneHancer (GH) Regulatory Elements for DOCK2 Gene

Promoters and enhancers for DOCK2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J169636 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.4 413 2.1 HDGF RB1 ZBTB40 KLF5 ZNF143 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 DOCK2 SPDL1 ENSG00000254192 GC05M169639
GH05J169653 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 11.3 +18.4 18409 4.6 HDGF PKNOX1 STAT5A BMI1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 DOCK2 SPDL1 GC05M169639 ENSG00000253269
GH05J169701 Enhancer 1 ENCODE dbSUPER 12.2 +65.9 65871 2.6 HDGF PKNOX1 SMAD1 STAT5A BMI1 BATF IRF4 RAD21 ZNF366 ZNF143 DOCK2 GC05M169639 ENSG00000253269
GH05J169647 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5 +12.6 12575 5.6 HDGF HDAC1 PKNOX1 STAT5A BATF IRF4 TCF12 ZNF207 ZNF143 ATF7 ENSG00000253269 SPDL1 DOCK2 GC05M169639
GH05J169881 Enhancer 0.8 FANTOM5 Ensembl dbSUPER 8.1 +244.7 244658 0.6 NFE2 FAM196B DOCK2 LCP2 ENSG00000253269
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DOCK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DOCK2 gene promoter:

Genomic Locations for DOCK2 Gene

Genomic Locations for DOCK2 Gene
446,136 bases
Plus strand

Genomic View for DOCK2 Gene

Genes around DOCK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOCK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOCK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOCK2 Gene

Proteins for DOCK2 Gene

  • Protein details for DOCK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Dedicator of cytokinesis protein 2
    Protein Accession:
    Secondary Accessions:
    • Q2M3I0
    • Q96AK7

    Protein attributes for DOCK2 Gene

    1830 amino acids
    Molecular mass:
    211948 Da
    Quaternary structure:
    • Homodimer (Probable). Interacts with RAC1 and RAC2. Interacts with CRKL and VAV. Interacts with CD3Z.
    • Sequence=BAA13200.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DOCK2 Gene

    Alternative splice isoforms for DOCK2 Gene


neXtProt entry for DOCK2 Gene

Post-translational modifications for DOCK2 Gene

  • Ubiquitination at Lys1820, posLast=18141814, posLast=18081808, posLast=17261726, Lys1615, posLast=14741474, Lys1435, posLast=14241424, posLast=12121212, Lys1184, posLast=11271127, Lys1076, posLast=863863, Lys835, posLast=622622, Lys494, posLast=485485, Lys410, Lys371, posLast=268268, and posLast=199199
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DOCK2 Gene

Domains & Families for DOCK2 Gene

Gene Families for DOCK2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • The DHR-2 domain may mediate the GEF activity.
  • Belongs to the DOCK family.
  • The DHR-2 domain may mediate the GEF activity.
  • Belongs to the DOCK family.
genes like me logo Genes that share domains with DOCK2: view

Function for DOCK2 Gene

Molecular function for DOCK2 Gene

UniProtKB/Swiss-Prot Function:
Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines. Activates RAC1 and RAC2, but not CDC42, by functioning as a guanine nucleotide exchange factor (GEF), which exchanges bound GDP for free GTP. May also participate in IL2 transcriptional activation via the activation of RAC2.

Phenotypes From GWAS Catalog for DOCK2 Gene

Gene Ontology (GO) - Molecular Function for DOCK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 12134158
GO:0030676 Rac guanyl-nucleotide exchange factor activity IDA 10559471
genes like me logo Genes that share ontologies with DOCK2: view
genes like me logo Genes that share phenotypes with DOCK2: view

Human Phenotype Ontology for DOCK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DOCK2 Gene

MGI Knock Outs for DOCK2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for DOCK2 Gene

Localization for DOCK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOCK2 Gene

Endomembrane system; Peripheral membrane protein. Cytoplasm, cytoskeleton. Note=Colocalizes with F-actin.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DOCK2 gene
Compartment Confidence
extracellular 5
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 3

Gene Ontology (GO) - Cellular Components for DOCK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with DOCK2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DOCK2 Gene

Pathways & Interactions for DOCK2 Gene

genes like me logo Genes that share pathways with DOCK2: view

Pathways by source for DOCK2 Gene

Gene Ontology (GO) - Biological Process for DOCK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001766 membrane raft polarization IEA --
GO:0001768 establishment of T cell polarity IEA --
GO:0001771 immunological synapse formation IEA --
GO:0002277 myeloid dendritic cell activation involved in immune response ISS,IEA --
GO:0006935 chemotaxis IEA --
genes like me logo Genes that share ontologies with DOCK2: view

No data available for SIGNOR curated interactions for DOCK2 Gene

Drugs & Compounds for DOCK2 Gene

(3) Drugs for DOCK2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with DOCK2: view

Transcripts for DOCK2 Gene

Unigene Clusters for DOCK2 Gene

Dedicator of cytokinesis 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DOCK2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a ·
SP1: - -
SP2: - -

ExUns: 26b ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39a · 39b ^ 40a · 40b ^ 41 ^ 42 ^ 43 ^ 44 ^ 45a · 45b ^ 46 ^
SP1: - - -
SP2: - - - -

ExUns: 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54

Relevant External Links for DOCK2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DOCK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DOCK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DOCK2 Gene

This gene is overexpressed in Whole Blood (x17.0) and Spleen (x5.1).

Protein differential expression in normal tissues from HIPED for DOCK2 Gene

This gene is overexpressed in Lymph node (14.4), Peripheral blood mononuclear cells (9.9), Monocytes (9.0), and Tlymphocyte (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DOCK2 Gene

Protein tissue co-expression partners for DOCK2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DOCK2 Gene:


SOURCE GeneReport for Unigene cluster for DOCK2 Gene:


mRNA Expression by UniProt/SwissProt for DOCK2 Gene:

Tissue specificity: Specifically expressed in hematopoietic cells. Highly expressed in peripheral blood leukocytes, and expressed at intermediate level in thymus and spleen. Expressed at very low level in the small intestine and colon.

Evidence on tissue expression from TISSUES for DOCK2 Gene

  • Blood(4.5)
  • Bone marrow(4.4)
  • Intestine(4.3)
  • Liver(4.1)
  • Lymph node(2.4)
  • Spleen(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DOCK2 Gene

Germ Layers:
  • mesoderm
  • immune
  • lymphatic
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with DOCK2: view

Orthologs for DOCK2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DOCK2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DOCK2 34 33
  • 99.67 (n)
(Monodelphis domestica)
Mammalia DOCK2 34
  • 93 (a)
(Canis familiaris)
Mammalia DOCK2 34 33
  • 91.79 (n)
(Bos Taurus)
Mammalia DOCK2 34 33
  • 90.59 (n)
(Mus musculus)
Mammalia Dock2 16 34 33
  • 89.7 (n)
(Rattus norvegicus)
Mammalia Dock2 33
  • 89 (n)
(Ornithorhynchus anatinus)
Mammalia DOCK2 34
  • 53 (a)
(Gallus gallus)
Aves DOCK2 34 33
  • 76.63 (n)
(Anolis carolinensis)
Reptilia DOCK2 34
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dock2 33
  • 73.12 (n)
(Danio rerio)
Actinopterygii DOCK2 34
  • 65 (a)
fruit fly
(Drosophila melanogaster)
Insecta mbc 34 35
  • 36 (a)
(Caenorhabditis elegans)
Secernentea ced-5 34
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 15 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
Cin.7360 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7360 33
Species where no ortholog for DOCK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DOCK2 Gene

Gene Tree for DOCK2 (if available)
Gene Tree for DOCK2 (if available)
Evolutionary constrained regions (ECRs) for DOCK2: view image

Paralogs for DOCK2 Gene

Paralogs for DOCK2 Gene

(7) SIMAP similar genes for DOCK2 Gene using alignment to 7 proteins:

  • H0YB76_HUMAN
  • H7C082_HUMAN
  • Q5XG91_HUMAN
genes like me logo Genes that share paralogs with DOCK2: view

Variants for DOCK2 Gene

Sequence variations from dbSNP and Humsavar for DOCK2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs114888195 likely-benign, Immunodeficiency 40 169,702,404(+) G/A coding_sequence_variant, missense_variant
rs13155521 benign, Immunodeficiency 40 169,747,480(+) A/G coding_sequence_variant, synonymous_variant
rs144632263 benign, Immunodeficiency 40 169,671,132(+) G/A/T coding_sequence_variant, synonymous_variant
rs146746458 benign, Immunodeficiency 40 169,684,342(+) G/A coding_sequence_variant, synonymous_variant
rs149343589 benign, Immunodeficiency 40 170,081,898(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for DOCK2 Gene

Variant ID Type Subtype PubMed ID
dgv1055e199 CNV deletion 23128226
esv26456 CNV loss 19812545
esv2678882 CNV deletion 23128226
esv2731056 CNV deletion 23290073
esv2731057 CNV deletion 23290073
esv2731058 CNV deletion 23290073
esv2731059 CNV deletion 23290073
esv2731060 CNV deletion 23290073
esv3303058 CNV tandem duplication 20981092
esv3308817 CNV mobile element insertion 20981092
esv3407984 CNV insertion 20981092
esv3416800 CNV duplication 20981092
esv3566992 CNV deletion 23714750
esv3566995 CNV deletion 23714750
esv3607549 CNV loss 21293372
esv3607550 CNV loss 21293372
esv3607553 CNV loss 21293372
esv3607554 CNV loss 21293372
esv3607558 CNV loss 21293372
esv3607559 CNV gain 21293372
esv3607560 CNV loss 21293372
esv3607561 CNV loss 21293372
esv3607562 CNV loss 21293372
esv3607563 CNV loss 21293372
esv9625 CNV gain 19470904
esv988430 CNV insertion 20482838
nsv1026577 CNV gain 25217958
nsv1031257 CNV gain 25217958
nsv328128 CNV deletion 16902084
nsv329782 CNV deletion 16902084
nsv474386 CNV novel sequence insertion 20440878
nsv476301 CNV novel sequence insertion 20440878
nsv476596 CNV novel sequence insertion 20440878
nsv5124 CNV deletion 18451855
nsv521295 CNV loss 19592680
nsv525224 CNV loss 19592680
nsv600259 CNV loss 21841781
nsv969011 CNV duplication 23825009

Variation tolerance for DOCK2 Gene

Residual Variation Intolerance Score: 8.84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.06; 60.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DOCK2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOCK2 Gene

Disorders for DOCK2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DOCK2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 40
  • imd40
dock2 deficiency
childhood pilocytic astrocytoma
  • pediatric pilocytic astrocytoma
usher syndrome, type ic
  • ush1c
- elite association - COSMIC cancer census association via MalaCards
Search DOCK2 in MalaCards View complete list of genes associated with diseases


  • Immunodeficiency 40 (IMD40) [MIM:616433]: A form of combined immunodeficiency characterized by lymphopenia, and defective T-cell, B-cell, and NK-cell responses. Patients suffer from severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation. {ECO:0000269 PubMed:26083206}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DOCK2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DOCK2: view

No data available for Genatlas for DOCK2 Gene

Publications for DOCK2 Gene

  1. DOCK2 associates with CrkL and regulates Rac1 in human leukemia cell lines. (PMID: 12393632) Nishihara H … Tanaka S (Blood 2002) 3 4 22 58
  2. Non-adherent cell-specific expression of DOCK2, a member of the human CDM-family proteins. (PMID: 10559471) Nishihara H … Matsuda M (Biochimica et biophysica acta 1999) 3 4 22 58
  3. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. (PMID: 26083206) Dobbs K … Notarangelo LD (The New England journal of medicine 2015) 3 4 58
  4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for DOCK2 Gene

Sources for DOCK2 Gene

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