DOK7 (docking protein 7)

2013-03-01  

Identity

HGNC
DOK7
LOCATION
4p16.3
LOCUSID
285489
ALIAS
C4orf25,CMS10,CMS1B,FADS3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 285489
MIM: 610285
HGNC: 26594
Ensembl: ENSG00000175920

Variants:

dbSNP: 285489
ClinVar: 285489
TCGA: ENSG00000175920
COSMIC: DOK7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175920ENST00000340083Q18PE1
ENSG00000175920ENST00000507039Q18PE1
ENSG00000175920ENST00000515886A0A1W2PRA3
ENSG00000175920ENST00000643608A0A2R8Y701

Expression (GTEx)

0
5
10
15
20
25
30
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
167940802006The muscle protein Dok-7 is essential for neuromuscular synaptogenesis.121
203715442010Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.32
181656822008Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.18
292924992018Interaction between ROR1 and MuSK activation complex in myogenic cells.1
299908582018Repression of Dok7 expression mediated by DNMT1 promotes glioma cells proliferation.1
169170262006Dok-7 mutations underlie a neuromuscular junction synaptopathy.0
174399812007Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.0
181610302008Variable phenotypes associated with mutations in DOK7.0
186269732008Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.0
192442122009Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation.0

Citation

Dessen P

DOK7 (docking protein 7)

Atlas Genet Cytogenet Oncol Haematol. 2013-03-01

Online version: http://atlasgeneticsoncology.org/gene/53213/dok7