DOCK3 (dedicator of cytokinesis 3)

2003-12-01  

Identity

HGNC
LOCATION
3p21.2
LOCUSID
ALIAS
MOCA,NEDIDHA,PBP
FUSION GENES

Other Information

Locus ID:

NCBI: 1795
MIM: 603123
HGNC: 2989
Ensembl: ENSG00000088538

Variants:

dbSNP: 1795
ClinVar: 1795
TCGA: ENSG00000088538
COSMIC: DOCK3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000088538ENST00000266037Q8IZD9

Expression (GTEx)

0
10
20
30
40
50
60

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
327667882020DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies.9
327667882020DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies.9
309761112019Variants in DOCK3 cause developmental delay and hypotonia.10
309761112019Variants in DOCK3 cause developmental delay and hypotonia.10
291306322018DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.10
291306322018DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.10
281953182017Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.16
281953182017Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.16
263196812016Dock3 Participate in Epileptogenesis Through rac1 Pathway in Animal Models.12
263196812016Dock3 Participate in Epileptogenesis Through rac1 Pathway in Animal Models.12
256870352015Inhibition of RAC1-GEF DOCK3 by miR-512-3p contributes to suppression of metastasis in non-small cell lung cancer.23
256870352015Inhibition of RAC1-GEF DOCK3 by miR-512-3p contributes to suppression of metastasis in non-small cell lung cancer.23
221150422012MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins.12
227460612012[Role of Dock3 in axonal regeneration].0
221150422012MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins.12

Citation

Dessen P

DOCK3 (dedicator of cytokinesis 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40355/gene-explorer/case-report-explorer/