DOCK6 (dedicator of cytokinesis 6)

2014-08-01  

Identity

HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
AOS2,ZIR1
FUSION GENES

Other Information

Locus ID:

NCBI: 57572
MIM: 614194
HGNC: 19189
Ensembl: ENSG00000130158

Variants:

dbSNP: 57572
ClinVar: 57572
TCGA: ENSG00000130158
COSMIC: DOCK6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130158ENST00000294618Q96HP0
ENSG00000130158ENST00000585904K7EKT0
ENSG00000130158ENST00000587656K7ESB7
ENSG00000130158ENST00000587734K7ERK2
ENSG00000130158ENST00000588666K7EP51
ENSG00000130158ENST00000590680K7EP20

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

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

References

Pubmed IDYearTitleCitations
218200962011Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.36
276935072016Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator.12
258320082015miR-142-3p Is a Regulator of the TGFβ-Mediated Vascular Smooth Muscle Cell Phenotype.7
295878662018miR-148b-3p inhibits gastric cancer metastasis by inhibiting the Dock6/Rac1/Cdc42 axis.7
258249052015DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.6
282873272019Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases.1
308987182019Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.1

Citation

Dessen P

DOCK6 (dedicator of cytokinesis 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54261/dock6