DOK7

GENE INFORMATION

? »

Gene name

DOK7 (HGNC Symbol)

Synonyms

C4orf25, Dok-7, FLJ33718, FLJ39137

Description

docking protein 7 (HGNC Symbol)

Entrez gene 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]

Chromosome

4 (Chromosome progress)

Cytoband

p16.3

Chromosome location (bp)

3465033 - 3503200

Ensembl

ENSG00000175920 (version 73.37)

Entrez gene

285489

UniProt

Q18PE1 (UniProt - Evidence at protein level)

neXtProt

NX_Q18PE1

Antibodypedia

DOK7 antibodies
 

PROTEIN VIEW

? »
 
 
 
DOK7-001
 
DOK7-002
 
DOK7-201
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DOK7-001 ENSP00000423614
ENST00000507039
Q18PE1
Show all »
Show » Show » 255 27.5 No 1
DOK7-002 ENSP00000344432
ENST00000340083
Q18PE1
Show all »
Show » Show » 504 53.1 No 1
DOK7-201 ENSP00000374304
ENST00000389653
Q18PE1
Show all »
Show » Show » 608 63.9 No 1