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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
  • 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, predominantly in the peripheral blood leukocytes, and is involved in remodeling of the actin cytoskeleton required for lymphocyte migration, through the activation of RAC. Mice lacking this gene show a severe impairment in the migration and homing of lymphocytes. These mutant mice also exhibited long-term survival of allografts, suggesting that this gene may be a target for controlling transplant rejection. [provided by RefSeq, Oct 2011]

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 Platelet activation, signaling and aggregation and Infectious disease. GO annotations related to this gene include binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK5.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOCK2 Gene

Genomics for DOCK2 Gene

Regulatory Elements for DOCK2 Gene

Promoters for DOCK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DOCK2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for DOCK2 Gene at MOPED

Post-translational modifications for DOCK2 Gene

  • Ubiquitination at Lys 199, Lys 268, Lys 371, Lys 410, Lys 485, Lys 494, Lys 622, Lys 835, Lys 863, Lys 1076, Lys 1127, Lys 1184, Lys 1212, Lys 1424, Lys 1435, Lys 1474, Lys 1615, Lys 1726, Lys 1808, Lys 1814, and Lys 1820
  • Modification sites at PhosphoSitePlus

Other Protein References for DOCK2 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for DOCK2

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.
  • Contains 1 DHR-1 domain.
  • Contains 1 DHR-2 domain.
  • Contains 1 SH3 domain.
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:0005488 binding IEA --
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

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
Jensen Localization Image for DOCK2 Gene COMPARTMENTS Subcellular localization image for DOCK2 gene
Compartment Confidence
cytosol 5
extracellular 5
cytoskeleton 4
plasma membrane 4
nucleus 3

Gene Ontology (GO) - Cellular Components for DOCK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
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

1 BioSystems pathway for DOCK2 Gene
1 GeneGo (Thomson Reuters) pathway 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:0002277 myeloid dendritic cell activation involved in immune response IEA,ISS --
GO:0007010 cytoskeleton organization IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0016032 viral process TAS --
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:

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 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, MOPED, and MaxQB for DOCK2 Gene



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.
genes like me logo Genes that share expression patterns with DOCK2: view

Protein tissue co-expression partners for DOCK2 Gene

- Elite partner

Primer Products

In Situ Assay 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 35
  • 99.67 (n)
  • 99.72 (a)
DOCK2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DOCK2 36
  • 91 (a)
OneToOne
DOCK2 35
  • 90.59 (n)
  • 94.6 (a)
dog
(Canis familiaris)
Mammalia DOCK2 35
  • 91.79 (n)
  • 96.39 (a)
DOCK2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dock2 16
Dock2 35
  • 89.7 (n)
  • 95.19 (a)
Dock2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DOCK2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK2 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dock2 35
  • 89 (n)
  • 94.26 (a)
chicken
(Gallus gallus)
Aves DOCK2 36
  • 86 (a)
OneToOne
DOCK2 35
  • 76.63 (n)
  • 86.14 (a)
lizard
(Anolis carolinensis)
Reptilia DOCK2 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dock2 35
  • 73.12 (n)
  • 80.31 (a)
zebrafish
(Danio rerio)
Actinopterygii DOCK2 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mbc 36
  • 36 (a)
ManyToMany
mbc 37
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea ced-5 36
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 15 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7360 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
Species with no ortholog for DOCK2:
  • 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
rs2270898 -, - 170,081,889(-) AGATG(A/T)GTTGG reference, missense
rs13179480 - 170,069,165(+) CAGGG(A/C)CCACC reference, missense
VAR_073859 Immunodeficiency 40 (IMD40)
VAR_073860 Immunodeficiency 40 (IMD40)
rs30079 -- 169,845,606(-) AGGAA(A/G)AGCAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv5124 CNV Loss 18451855
esv2731056 CNV Deletion 23290073
esv2731057 CNV Deletion 23290073
esv2731059 CNV Deletion 23290073
esv2731058 CNV Deletion 23290073
esv9625 CNV Gain 19470904
nsv521295 CNV Loss 19592680
esv273090 CNV Insertion 20981092
esv988430 CNV Insertion 20482838
nsv328128 CNV Loss 16902084
esv2731060 CNV Deletion 23290073
esv260032 OTHER Complex 20981092
dgv1055e199 CNV Deletion 23128226
esv26456 CNV Loss 19812545
esv2678882 CNV Deletion 23128226
nsv329782 CNV Loss 16902084
nsv525224 CNV Loss 19592680

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

HapMap Linkage Disequilibrium report
DOCK2
Human Gene Mutation Database (HGMD)
DOCK2

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: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 40
  • imd40
dock2 deficiency
childhood pilocytic astrocytoma
  • pediatric pilocytic astrocytoma
lymphopenia
  • lymphocytopenia
- 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 23 67
  2. Specific recognition of Rac2 and Cdc42 by DOCK2 and DOCK9 guanine nucleotide exchange factors. (PMID: 18056264) Kwofie M.A. … Skowronski J. (J. Biol. Chem. 2008) 3 23
  3. DOCK2 regulates Rac activation and cytoskeletal reorganization through interaction with ELMO1. (PMID: 12829596) Sanui T. … Fukui Y. (Blood 2003) 3 23
  4. 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 23
  5. Inherited DOCK2 deficiency in patients with early-onset invasive infections. (PMID: 26083206) Dobbs K. … Notarangelo L.D. (N. Engl. J. Med. 2015) 3

Products for DOCK2 Gene

Sources for DOCK2 Gene

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