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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 Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters. 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

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

Genomics for DOCK2 Gene

Regulatory Elements for DOCK2 Gene

Enhancers for DOCK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G169653 1.5 FANTOM5 ENCODE dbSUPER 11.3 +18.4 18410 4.6 HDGF ELF3 PKNOX1 TBL1XR1 BMI1 FEZF1 SCRT2 ZSCAN5C FOS RELB DOCK2 SPDL1 GC05M169639 ENSG00000253269
GH05G169701 1.1 ENCODE dbSUPER 12.2 +65.9 65871 2.6 HDGF TBP PKNOX1 TBL1XR1 BMI1 RAD21 ZBTB40 GATA2 ZNF366 ZNF207 DOCK2 GC05M169639 ENSG00000253269
GH05G169647 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.1 +12.6 12576 5.6 HDAC1 HDGF TBP PKNOX1 ZNF133 WRNIP1 TCF12 GATA2 ZNF143 ZNF207 ENSG00000253269 SPDL1 DOCK2 GC05M169639
GH05G169881 0.9 FANTOM5 Ensembl dbSUPER 8.1 +244.7 244658 0.6 NFE2 FAM196B DOCK2 LCP2 ENSG00000253269
GH05G169658 0.5 dbSUPER 12 +22.8 22776 2.2 PKNOX1 NR2F1 CREB1 NR2C1 NR2F6 DOCK2 GC05M169639 ENSG00000253269
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DOCK2 on UCSC Golden Path with GeneCards custom track

Promoters for DOCK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000190478 253 1001 HDGF SIN3A ZBTB40 EGR1 ELK1 ZNF143 RELB ETV6 IKZF2 CREM

Genomic Location for DOCK2 Gene

Chromosome:
5
Start:
169,637,247 bp from pter
End:
170,083,382 bp from pter
Size:
446,136 bases
Orientation:
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:
    Q92608-DOCK2_HUMAN
    Recommended name:
    Dedicator of cytokinesis protein 2
    Protein Accession:
    Q92608
    Secondary Accessions:
    • Q2M3I0
    • Q96AK7

    Protein attributes for DOCK2 Gene

    Size:
    1830 amino acids
    Molecular mass:
    211948 Da
    Quaternary structure:
    • Homodimer (Probable). Interacts with RAC1 and RAC2. Interacts with CRKL and VAV. Interacts with CD3Z.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for DOCK2 Gene

Post-translational modifications for DOCK2 Gene

  • Ubiquitination at isoforms=199, isoforms=268, Lys371, Lys410, Lys485, isoforms=494, Lys622, isoforms=2835, Lys863, Lys1076, Lys1127, Lys1184, Lys1212, isoforms=1424, isoforms=1435, Lys1474, isoforms=1615, isoforms=1726, Lys1808, isoforms=1814, and Lys1820
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DOCK2 Gene

Domains & Families for DOCK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q92608

UniProtKB/Swiss-Prot:

DOCK2_HUMAN :
  • The DHR-2 domain may mediate the GEF activity.
  • Belongs to the DOCK family.
Domain:
  • The DHR-2 domain may mediate the GEF activity.
Family:
  • Belongs to the DOCK family.
genes like me logo Genes that share domains with DOCK2: view

No data available for Gene Families for DOCK2 Gene

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.

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:0005515 protein binding IPI 12134158
GO:0030676 Rac guanyl-nucleotide exchange factor activity IDA 10559471
GO:0042608 T cell receptor binding IDA 12176041
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

CRISPR Products

Inhibitory RNA 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

COMPARTMENTS
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

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 IEA,ISS --
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:

CRISPR Products

Inhibitory RNA Products

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: - -
SP3:
SP4:
SP5:
SP6:

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: - - - -
SP3:
SP4:
SP5:
SP6:

ExUns: 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for DOCK2 Gene

GeneLoc Exon Structure for
DOCK2
ECgene alternative splicing isoforms for
DOCK2

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, PaxDb, 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:

DOCK2

SOURCE GeneReport for Unigene cluster for DOCK2 Gene:

Hs.586174

mRNA Expression by UniProt/SwissProt for DOCK2 Gene:

Q92608-DOCK2_HUMAN
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
Systems:
  • immune
  • lymphatic
Organs:
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with DOCK2: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia DOCK2 34 35
  • 99.67 (n)
oppossum
(Monodelphis domestica)
Mammalia DOCK2 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DOCK2 34 35
  • 91.79 (n)
cow
(Bos Taurus)
Mammalia DOCK2 34 35
  • 90.59 (n)
mouse
(Mus musculus)
Mammalia Dock2 34 16 35
  • 89.7 (n)
rat
(Rattus norvegicus)
Mammalia Dock2 34
  • 89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK2 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves DOCK2 34 35
  • 76.63 (n)
lizard
(Anolis carolinensis)
Reptilia DOCK2 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dock2 34
  • 73.12 (n)
zebrafish
(Danio rerio)
Actinopterygii DOCK2 35
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mbc 36 35
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea ced-5 35
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7360 34
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

ENSEMBL:
Gene Tree for DOCK2 (if available)
TreeFam:
Gene Tree for DOCK2 (if available)

Paralogs for DOCK2 Gene

Paralogs for DOCK2 Gene

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 Sequence Context AA Info Type
rs780318765 Pathogenic, Immunodeficiency 40 (IMD40) [MIM:616433] 170,019,037(+) AGCTC(C/T)GGAAA reference, missense
VAR_073859 Immunodeficiency 40 (IMD40) [MIM:616433]
rs762909359 Pathogenic 170,047,513(+) AGATC(C/T)AGCAG reference, stop-gained
rs864622013 Uncertain significance 170,019,079(+) TGTGT(G/T)AATAT reference, stop-gained
rs1000000794 -- 169,823,387(+) GCAAA(C/T)TGAAT intron-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)

Relevant External Links for DOCK2 Gene

Human Gene Mutation Database (HGMD)
DOCK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOCK2

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

Disorders for DOCK2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
immunodeficiency 40
  • dock2 deficiency
dock2 deficiency
childhood pilocytic astrocytoma
  • pediatric pilocytic astrocytoma
usher syndrome, type 1c
  • usher syndrome type 1c
immune system disease
  • immune system and disorders
- elite association - COSMIC cancer census association via MalaCards
Search DOCK2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DOCK2_HUMAN
  • 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.

Relevant External Links for DOCK2

Genetic Association Database (GAD)
DOCK2
Human Genome Epidemiology (HuGE) Navigator
DOCK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DOCK2
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 64
  2. Non-adherent cell-specific expression of DOCK2, a member of the human CDM-family proteins. (PMID: 10559471) Nishihara H. … Matsuda M. (Biochim. Biophys. Acta 1999) 3 4 22 64
  3. Inherited DOCK2 deficiency in patients with early-onset invasive infections. (PMID: 26083206) Dobbs K. … Notarangelo L.D. (N. Engl. J. Med. 2015) 3 4 64
  4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G. … White R.L. (Alcohol. Clin. Exp. Res. 2010) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for DOCK2 Gene

Sources for DOCK2 Gene

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