Tbio DOK7 Protein Dok-7

Protein Summary

Description

Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK. 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]

Uniprot Accession IDs

• Q18PE1
• A2A499
• A2RRD4
• E9PB56
• Q6P6A6
• Q86XG5
• Q8N2J3
• Q8NBC1

Gene Name

• DOK7

Ensembl ID

• ENST00000340083
• ENSP00000344432
• ENSG00000175920
• ENST00000507039
• ENSP00000423614

Symbol

• C4orf25
• CMS10
• CMS1B
• C4orf25

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
cell type or tissue	0.9
interacting protein	0.68
transcription factor perturbation	0.61
tissue	0.58
tissue sample	0.58

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 89.57   (req: < 5)

Gene RIFs: 35   (req: <= 3)

Antibodies: 372   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 89.57   (req: >= 5)

Gene RIFs: 35   (req: > 3)

Antibodies: 372   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0