Human Gene DOCK2 (uc010jjm.3)
  Description: Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.
RefSeq Summary (NM_004946): 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].
Transcript (Including UTRs)
   Position: hg19 chr5:169,130,953-169,510,386 Size: 379,434 Total Exon Count: 38 Strand: +
Coding Region
   Position: hg19 chr5:169,135,210-169,509,862 Size: 374,653 Coding Exon Count: 37 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:169,130,953-169,510,386)mRNA (may differ from genome)Protein (1322 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMalacardsMGIPubMed
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: E7ERW7_HUMAN
DESCRIPTION: SubName: Full=Dedicator of cytokinesis protein 2;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DOCK2
CDC HuGE Published Literature: DOCK2
Positive Disease Associations: Asthma , Body Height , Eosinophils , Heart Failure , Leptin , Myocardial Infarction , protein quantitative trait loci , Stroke
Related Studies:
  1. Asthma
    C Ober et al. American journal of human genetics 2000, A second-generation genomewide screen for asthma-susceptibility alleles in a founder population., American journal of human genetics. [PubMed 11022011]
  2. Asthma
    C Ober et al. American journal of human genetics 2000, A second-generation genomewide screen for asthma-susceptibility alleles in a founder population., American journal of human genetics. [PubMed 11022011]
  3. Body Height
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: DOCK2
Diseases sorted by gene-association score: immunodeficiency 40* (1578), dock2 deficiency (18), childhood pilocytic astrocytoma (11), usher syndrome, type 1c (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 47.50 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 165.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.00164-0.238 Picture PostScript Text
3' UTR -148.06524-0.283 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009056 - Cyt_c_dom
IPR026791 - DOCK
IPR026799 - DOCK_A
IPR010703 - DOCK_C

Pfam Domains:
PF06920 - Dock homology region 2

SCOP Domains:
46626 - Cytochrome c

ModBase Predicted Comparative 3D Structure on E7ERW7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity

Biological Process:
GO:0007264 small GTPase mediated signal transduction
GO:0030036 actin cytoskeleton organization

Cellular Component:
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  D86964 - Homo sapiens mRNA for KIAA0209 gene.
BC104900 - Homo sapiens dedicator of cytokinesis 2, mRNA (cDNA clone MGC:132560 IMAGE:8143903), complete cds.
BC113457 - Homo sapiens dedicator of cytokinesis 2, mRNA (cDNA clone MGC:142017 IMAGE:8322509), complete cds.
BC143358 - Homo sapiens cDNA clone IMAGE:9051863.
AB463008 - Synthetic construct DNA, clone: pF1KA0209, Homo sapiens DOCK2 gene for dedicator of cytokinesis 2, without stop codon, in Flexi system.
BC016996 - Homo sapiens dedicator of cytokinesis 2, mRNA (cDNA clone IMAGE:4413481), complete cds.
AK128107 - Homo sapiens cDNA FLJ46228 fis, clone TESTI4014908, highly similar to Dedicator of cytokinesis protein 2.
BC035613 - Homo sapiens dedicator of cytokinesis 2, mRNA (cDNA clone IMAGE:4385164), partial cds.
BC084556 - Homo sapiens dedicator of cytokinesis 2, mRNA (cDNA clone IMAGE:5933446), partial cds.
AK128449 - Homo sapiens cDNA FLJ46592 fis, clone THYMU3045510, highly similar to Dedicator of cytokinesis protein 2.
AK130744 - Homo sapiens cDNA FLJ27234 fis, clone SYN07051.
JD323286 - Sequence 304310 from Patent EP1572962.
JD427461 - Sequence 408485 from Patent EP1572962.
JD479699 - Sequence 460723 from Patent EP1572962.
JD456118 - Sequence 437142 from Patent EP1572962.
JD376416 - Sequence 357440 from Patent EP1572962.
JD503341 - Sequence 484365 from Patent EP1572962.
JD242413 - Sequence 223437 from Patent EP1572962.
JD284821 - Sequence 265845 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04062 - Chemokine signaling pathway
hsa04666 - Fc gamma R-mediated phagocytosis

-  Other Names for This Gene
  Alternate Gene Symbols: AK128107, E7ERW7, E7ERW7_HUMAN
UCSC ID: uc010jjm.3
RefSeq Accession: NM_004946
Protein: E7ERW7

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK128107.1
exon count: 38CDS single in 3' UTR: no RNA size: 4653
ORF size: 3969CDS single in intron: no Alignment % ID: 99.87
txCdsPredict score: 7291.50frame shift in genome: no % Coverage: 99.94
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.