DOK7


Summary: The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].

Loading, please wait...
Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:610285
PHARMGKB IDPA162384035
Map Location4p16.3

Gene Categories:

TYROSINE KINASEKINASE

GO terms in DOK7


Loading, please wait...
Term Type
Evidence Type
GO Term ID
GO Des.
BP IDA GO:0061098 positive regulation of protein tyrosine kinase activity
CC IDA GO:0005634 nucleus
CC IDA GO:0005654 nucleoplasm
CC IDA GO:0005739 mitochondrion
CC IEA GO:0005886 plasma membrane
CC IEA GO:0030054 cell junction
Showing 1 to 6 of 9 rows

Gene expression in normal tissue: DOK7

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in DOK7


Loading, please wait...
Database
Pathway ID
Pathway Des.
No matching records found

Gene-Drug: Aster Plot


Loading, please wait...
Drug ID
Drug Name
Model Num.
iGMDRD134 Sorafenib 1
Showing 1 to 1 of 1 rows

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in DOK7

Loading, please wait...
Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

​​​​