DOCK3 (dedicator of cytokinesis 3)

2003-12-01 Affiliation

Identity

HGNC

DOCK3

LOCATION

3p21.2

LOCUSID

1795

ALIAS

MOCA,NEDIDHA,PBP

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000088538	ENST00000266037	Q8IZD9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Hemostasis	REACTOME	R-HSA-109582
Factors involved in megakaryocyte development and platelet production	REACTOME	R-HSA-983231

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
32766788	2020	DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies.	9
32766788	2020	DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies.	9
30976111	2019	Variants in DOCK3 cause developmental delay and hypotonia.	10
30976111	2019	Variants in DOCK3 cause developmental delay and hypotonia.	10
29130632	2018	DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.	10
29130632	2018	DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.	10
28195318	2017	Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.	16
28195318	2017	Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.	16
26319681	2016	Dock3 Participate in Epileptogenesis Through rac1 Pathway in Animal Models.	12
26319681	2016	Dock3 Participate in Epileptogenesis Through rac1 Pathway in Animal Models.	12
25687035	2015	Inhibition of RAC1-GEF DOCK3 by miR-512-3p contributes to suppression of metastasis in non-small cell lung cancer.	23
25687035	2015	Inhibition of RAC1-GEF DOCK3 by miR-512-3p contributes to suppression of metastasis in non-small cell lung cancer.	23
22115042	2012	MOCA 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
22746061	2012	[Role of Dock3 in axonal regeneration].	0
22115042	2012	MOCA 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/dock3-(dedicator-of-cytokinesis-3)