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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:610285 Ensembl IDEnsembl:ENSG00000175920 HGNC IDHGNC:HGNC:26594 PHARMGKB IDPA162384035 Map Location4p16.3 |
GO terms in DOK7
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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 |
Gene expression in normal tissue: DOK7
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DOK7
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Database | Pathway ID | Pathway Des. |
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No matching records found |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD134 | Sorafenib | 1 |
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in DOK7
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |