Human Gene DOCK8 (ENST00000432829.7_9) from GENCODE V47lift37 |
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 Sequence and Links to Tools and Databases
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Comments and Description Text from UniProtKB
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ID: DOCK8_HUMAN
DESCRIPTION: RecName: Full=Dedicator of cytokinesis protein 8;
FUNCTION: Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP (By similarity).
DOMAIN: The DHR-2 domain may mediate some GEF activity (By similarity).
DISEASE: Defects in DOCK8 are the cause of hyperimmunoglobulin E recurrent infection syndrome autosomal recessive (AR-HIES) [MIM:243700]. It is a rare disorder of immunity characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement.
DISEASE: Defects in DOCK8 are the cause of mental retardation autosomal dominant type 2 (MRD2) [MIM:614113]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Note=A chromosomal aberration disrupting DOCK8 has been found in a patient with mental retardation and ectodermal dysplasia. DOCK8 is disrupted in patients with mental retardation. A balanced translocation, t(X;9) (q13.1;p24).
SIMILARITY: Belongs to the DOCK family.
SIMILARITY: Contains 1 DHR-1 domain.
SIMILARITY: Contains 1 DHR-2 domain.
SEQUENCE CAUTION: Sequence=AAG42221.1; Type=Frameshift; Positions=2067, 2083; Sequence=BAB84907.1; Type=Frameshift; Positions=1956; Sequence=CAI46160.1; Type=Erroneous initiation;
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Primer design for this transcript
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MalaCards Disease Associations
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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
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Comparative Toxicogenomics Database (CTD)
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 Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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mRNA Secondary Structure of 3' and 5' UTRs
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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.
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Protein Domain and Structure Information
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InterPro Domains: Graphical view of domain structure
IPR016024 - ARM-type_fold
IPR026791 - DOCK
IPR010703 - DOCK_C
IPR021816 - DOCK_C/D_N
IPR026798 - DOCK_C_fam
Pfam Domains:
PF06920 - Dock homology region 2
PF11878 - Domain of unknown function (DUF3398)
PF14429 - C2 domain in Dock180 and Zizimin proteins
SCOP Domains:
48371 - ARM repeat
ModBase Predicted Comparative 3D Structure on Q8NF50
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.
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Orthologous Genes in Other Species
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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.
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Gene Ontology (GO) Annotations with Structured Vocabulary
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Descriptions from all associated GenBank mRNAs
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AB191037 - Homo sapiens DOCK8 mRNA for dedicator of cytokinesis 8, complete cds.
AK293353 - Homo sapiens cDNA FLJ55533 complete cds, highly similar to Dedicator of cytokinesis protein 8.
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.
BC043265 - Homo sapiens dedicator of cytokinesis 8, mRNA (cDNA clone IMAGE:5296847), with apparent retained intron.
HM991479 - Homo sapiens dedicator of cytokinesis 8 (DOCK8) mRNA, partial cds.
AK093572 - Homo sapiens cDNA FLJ36253 fis, clone THYMU2002154.
AX748209 - Sequence 1734 from Patent EP1308459.
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.
AK310555 - Homo sapiens cDNA, FLJ17597.
KC736820 - UNVERIFIED: Homo sapiens dedicator of cytokinesis 8-like (DOCK8) mRNA, complete sequence.
JD195302 - Sequence 176326 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.
BC112894 - Homo sapiens dedicator of cytokinesis 8, mRNA (cDNA clone IMAGE:4521861), partial cds.
BC019102 - Homo sapiens dedicator of cytokinesis 8, mRNA (cDNA clone IMAGE:5021899), partial cds.
CU676382 - Synthetic construct Homo sapiens gateway clone IMAGE:100019744 5' read DOCK8 mRNA.
KJ906343 - Synthetic construct Homo sapiens clone ccsbBroadEn_16013 DOCK8 gene, encodes complete protein.
AF194407 - Homo sapiens unknown mRNA.
AL583913 - Homo sapiens mRNA; cDNA DKFZp667B1411 (from clone DKFZp667B1411).
EU668358 - Homo sapiens epididymis luminal protein 205 (HEL-205) mRNA, complete cds.
JD234906 - Sequence 215930 from Patent EP1572962.
JD506770 - Sequence 487794 from Patent EP1572962.
JD068521 - Sequence 49545 from Patent EP1572962.
JD457789 - Sequence 438813 from Patent EP1572962.
JD093907 - Sequence 74931 from Patent EP1572962.
JD244938 - Sequence 225962 from Patent EP1572962.
JD563755 - Sequence 544779 from Patent EP1572962.
JD082432 - Sequence 63456 from Patent EP1572962.
JD309439 - Sequence 290463 from Patent EP1572962.
JD286543 - Sequence 267567 from Patent EP1572962.
JD095839 - Sequence 76863 from Patent EP1572962.
MA446866 - JP 2018138019-A/18792: Polycomb-Associated Non-Coding RNAs.
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Biochemical and Signaling Pathways
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Other Names for This Gene
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Alternate Gene Symbols: A2A350, A2BDF2, A4FU78, B7ZLP0, DOCK8_HUMAN, E9PH09, ENST00000432829.1, ENST00000432829.2, ENST00000432829.3, ENST00000432829.4, ENST00000432829.5, ENST00000432829.6, NM_203447, Q3MV16, Q5JPJ1, Q8NF50, Q8TEP1, Q8WUY2, Q9BYJ5, Q9H1Q2, Q9H1Q3, Q9H308, Q9H7P2, uc320bln.1, uc320bln.2
UCSC ID: ENST00000432829.7_9
RefSeq Accession: NM_203447.4
Protein: Q8NF50
(aka DOCK8_HUMAN or DOC8_HUMAN)
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Gene Model Information
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for a detailed description of the fields of the table above.
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Methods, Credits, and Use Restrictions
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Click here
for details on how this gene model was made and data restrictions if any.
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US Server
