Human Gene DOCK8 (uc010mgw.2)
|
|
Sequence and Links to Tools and Databases
|
|
Primer design for this transcript
|
|
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: - Heart Failure
, , .
[PubMed 0]
- 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)
|
|
Common Gene Haplotype Alleles
|
|
Press "+" in the title bar above to open this section.
| |
|
|
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
|
|
Microarray Expression Data
|
|
Press "+" in the title bar above to open this section.
| |
|
|
mRNA Secondary Structure of 3' and 5' UTRs
|
|
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
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.
Mouse | Rat | Zebrafish | D. melanogaster | C. elegans | S. cerevisiae |
No ortholog | No ortholog | No ortholog | No ortholog | No ortholog | No 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:
| 13 | CDS single in 3' UTR:
| no
| RNA size:
| 1983 |
ORF size:
| 1320 | CDS single in intron:
| no
| Alignment % ID:
| 99.84 |
txCdsPredict score:
| 2273.50 | frame 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.
| |
|
|
|