DOCK8 (dedicator of cytokinesis 8)

2010-01-01  

Identity

HGNC
LOCATION
9p24.3
LOCUSID
ALIAS
HEL-205,MRD2,ZIR8
FUSION GENES

Other Information

Locus ID:

NCBI: 81704
MIM: 611432
HGNC: 19191
Ensembl: ENSG00000107099

Variants:

dbSNP: 81704
ClinVar: 81704
TCGA: ENSG00000107099
COSMIC: DOCK8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107099ENST00000382329A2A369
ENSG00000107099ENST00000382331A2A370
ENSG00000107099ENST00000432829Q8NF50
ENSG00000107099ENST00000453981Q8NF50
ENSG00000107099ENST00000469197F8WC95
ENSG00000107099ENST00000469391Q8NF50
ENSG00000107099ENST00000479404C9J613
ENSG00000107099ENST00000483757E9PDJ4
ENSG00000107099ENST00000487230C9J7A3
ENSG00000107099ENST00000524396E9PHZ4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD31616045
PA445846ThrombocytopeniaDiseaseClinicalAnnotationassociatedPD31616045
PA448803carboplatinChemicalClinicalAnnotationassociatedPD31616045
PA449748gemcitabineChemicalClinicalAnnotationassociatedPD31616045

References

Pubmed IDYearTitleCitations
197764012009Combined immunodeficiency associated with DOCK8 mutations.198
229420192012A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.152
200047852009Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.135
220069772011DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice.71
225812612012DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
233802172013Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.45
219692762011DOCK8 is essential for T-cell survival and the maintenance of CD8+ T-cell memory.44
254224922014DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity.43
257241232015The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.35

Citation

Dessen P

DOCK8 (dedicator of cytokinesis 8)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51268/dock8