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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| docking protein 7 | MIM:610285 | Ensembl:ENSG00000175920 | HGNC:HGNC:26594 | PA162384035 | 4p16.3 |
GO terms in DOK7
| 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 |
| CC | IEA | GO:0045202 | synapse |
| MF | IEA | GO:0008289 | lipid binding |
| MF | IDA | GO:0019901 | protein kinase binding |
Gene expression in normal tissue: DOK7
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DOK7
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DOK7
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