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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
docking protein 7MIM:610285Ensembl:ENSG00000175920HGNC:HGNC:26594PA1623840354p16.3

Gene Categories:

TYROSINE KINASEKINASE

GO terms in DOK7


Term TypeEvidence TypeGO Term IDGO Des.
BPIDAGO:0061098positive regulation of protein tyrosine kinase activity
CCIDAGO:0005634nucleus
CCIDAGO:0005654nucleoplasm
CCIDAGO:0005739mitochondrion
CCIEAGO:0005886plasma membrane
CCIEAGO:0030054cell junction
CCIEAGO:0045202synapse
MFIEAGO:0008289lipid binding
MFIDAGO:0019901protein kinase binding

Gene expression in normal tissue: DOK7

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in DOK7


DatabasePathway IDPathway Des.

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD134Sorafenib1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in DOK7

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