Human Gene DOCK8 (uc010mgw.2)
  Description: Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 3, mRNA.
RefSeq Summary (NM_001193536): This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010].
Transcript (Including UTRs)
   Position: hg19 chr9:365,591-405,097 Size: 39,507 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr9:372,272-405,097 Size: 32,826 Coding Exon Count: 10 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:365,591-405,097)mRNA (may differ from genome)Protein (439 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsH-INV
HGNCLynxMalacardsMGIPubMedTreefam
UniProtKBWikipedia

-  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): DOCK8
CDC HuGE Published Literature: DOCK8
Positive Disease Associations: Heart Failure , Platelet Count
Related Studies:
  1. Heart Failure
    , , . [PubMed 0]
  2. Platelet Count
    Christian Gieger et al. Nature 2011, New gene functions in megakaryopoiesis and platelet formation., Nature. [PubMed 22139419]

-  MalaCards Disease Associations
  MalaCards Gene Search: DOCK8
Diseases sorted by gene-association score: hyper-ige recurrent infection syndrome, autosomal recessive* (1650), autosomal dominant non-syndromic intellectual disability* (164), hyper ige syndrome (17), hyper-ige recurrent infection syndrome (13), lagophthalmos (12), paralytic lagophthalmos (11), suppurative lymphadenitis (11), senile ectropion (11), pulmonary aspergilloma (8), cd3gamma deficiency (8), hyperimmunoglobulin syndrome (8), external ear disease (6), otitis externa (6), coronary aneurysm (5), eyelid disease (5), combined t cell and b cell immunodeficiency (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 22.94 RPKM in Spleen
Total median expression: 149.02 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 -362.081238-0.292 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
IPR026791 - DOCK
IPR026798 - DOCK_C_fam

ModBase Predicted Comparative 3D Structure on A2A370
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  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

Cellular Component:
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  AB191037 - Homo sapiens DOCK8 mRNA for dedicator of cytokinesis 8, complete cds.
BC130518 - Homo sapiens dedicator of cytokinesis 8, mRNA (cDNA clone MGC:163390 IMAGE:40146549), complete cds.
BC143929 - Homo sapiens dedicator of cytokinesis 8, mRNA (cDNA clone MGC:177464 IMAGE:9052447), complete cds.
AL832270 - Homo sapiens mRNA; cDNA DKFZp667O1117 (from clone DKFZp667O1117).
AK090429 - Homo sapiens mRNA for FLJ00346 protein.
BC030518 - Homo sapiens dedicator of cytokinesis 8, mRNA (cDNA clone IMAGE:5166359), containing frame-shift errors.
AY117695 - Homo sapiens nonfunctional glycosyl transferase-like protein mRNA, complete sequence.
AK074081 - Homo sapiens mRNA for FLJ00152 protein.
AK024436 - Homo sapiens mRNA for FLJ00026 protein, partial cds.
HM991480 - Homo sapiens dedicator of cytokinesis 8 (DOCK8) mRNA, partial cds.
BC045629 - Homo sapiens dedicator of cytokinesis 8, mRNA (cDNA clone IMAGE:5271738), complete cds.
KC736820 - UNVERIFIED: Homo sapiens dedicator of cytokinesis 8-like (DOCK8) mRNA, complete sequence.
JD386790 - Sequence 367814 from Patent EP1572962.
JD365291 - Sequence 346315 from Patent EP1572962.
JD553746 - Sequence 534770 from Patent EP1572962.
JD282124 - Sequence 263148 from Patent EP1572962.
JD042259 - Sequence 23283 from Patent EP1572962.
JD164725 - Sequence 145749 from Patent EP1572962.
LF211289 - JP 2014500723-A/18792: Polycomb-Associated Non-Coding RNAs.
AX174571 - Sequence 3 from Patent WO0142296.
MA446866 - JP 2018138019-A/18792: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A2A370, A2A370_HUMAN, BC030518, RP11-165F24.7-009
UCSC ID: uc010mgw.2
RefSeq Accession: NM_001193536
Protein: A2A370

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC030518.1
exon count: 13CDS single in 3' UTR: no RNA size: 1983
ORF size: 1320CDS single in intron: no Alignment % ID: 99.84
txCdsPredict score: 2273.50frame shift in genome: no % Coverage: 96.82
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: 24# 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.