Gene: DOK7

Alternate names for this Gene: C4orf25|CMS10|CMS1B|FADS3

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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.3

Description of this Gene: docking protein 7

Type of Gene: protein-coding

rs78770234 in DOK7 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs13103813 in DOK7 gene and Calcium measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs118203994 in DOK7 gene and Congenital myasthenic syndrome ib PMID 17439981 2007 Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

PMID 20012313 2010 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

PMID 22661499 2012 The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

PMID 16917026 2006 Dok-7 mutations underlie a neuromuscular junction synaptopathy.

PMID 20603078 2010 The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.

PMID 18626973 2008 Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

PMID 25237101 2014 Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.

PMID 18165682 2008 Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

PMID 23219351 2013 Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

PMID 2261499 1990 Rheological aspects of red blood cell aggregation.

PMID 23790237 2013 Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.

PMID 20458068 2010 Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

PMID 17452375 2007 Clinical features of the DOK7 neuromuscular junction synaptopathy.

PMID 21850686 2011 Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.

PMID 20554332 2010 Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 19837590 2009 Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs2699429 in DOK7 gene and Fibrinogen assay PMID 28107422 2017 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.

rs6831256 in DOK7 gene and Low density lipoprotein cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs606231128 in DOK7 gene and Muscle hypotonia PMID 19261599 2009 Germline mutation in DOK7 associated with fetal akinesia deformation sequence.

PMID 21984750 2011 Fetal akinesia: review of the genetics of the neuromuscular causes.

PMID 16917026 2006 Dok-7 mutations underlie a neuromuscular junction synaptopathy.

PMID 20554332 2010 Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

PMID 18626973 2008 Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

PMID 20458068 2010 Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

PMID 23831158 2013 DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.

PMID 24425145 2014 Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.

PMID 24500997 2014 How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia.

PMID 22678886 2012 Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.

PMID 22661499 2012 The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

rs606231128 in DOK7 gene and Myasthenic Syndromes, Congenital PMID 16917026 2006 Dok-7 mutations underlie a neuromuscular junction synaptopathy.

PMID 22230109 2012 186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.

PMID 19261599 2009 Germline mutation in DOK7 associated with fetal akinesia deformation sequence.

rs1560224831 in DOK7 gene and Pena-Shokeir syndrome type I PMID 25237101 2014 Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.

PMID 18165682 2008 Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

PMID 16917026 2006 Dok-7 mutations underlie a neuromuscular junction synaptopathy.

PMID 18626973 2008 Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

PMID 22661499 2012 The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

PMID 20458068 2010 Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

PMID 20012313 2010 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

PMID 23219351 2013 Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

PMID 17452375 2007 Clinical features of the DOK7 neuromuscular junction synaptopathy.

PMID 23790237 2013 Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.

PMID 2261499 1990 Rheological aspects of red blood cell aggregation.

PMID 21850686 2011 Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.

PMID 20554332 2010 Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

PMID 19837590 2009 Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

rs6831256 in DOK7 gene and Serum LDL cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs6831256 in DOK7 gene and Serum total cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs6831256 in DOK7 gene and Triglycerides measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

rs1054661 in DOK7 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.