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Ask your administrator if you think this is wrong. ======= DOK7 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: DOK7 * **<color #00a2e8>Official Name</color>**: docking protein 7 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=285489|285489]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q18PE1|Q18PE1]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DOK7&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DOK7|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610285|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: 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. {ECO:0000269|PubMed:20603078}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |IRS| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |positive regulation of protein tyrosine kinase activity| |regulation of protein tyrosine kinase activity| |lipid binding| |positive regulation of peptidyl-tyrosine phosphorylation| |regulation of peptidyl-tyrosine phosphorylation| |synapse| |protein kinase binding| |positive regulation of protein kinase activity| |cell junction| |positive regulation of kinase activity| |positive regulation of transferase activity| |regulation of protein kinase activity| |regulation of kinase activity| |regulation of transferase activity| |positive regulation of protein phosphorylation| |positive regulation of phosphorylation| |positive regulation of phosphorus metabolic process| |positive regulation of phosphate metabolic process| |positive regulation of protein modification process| |mitochondrion| |positive regulation of catalytic activity| |regulation of protein phosphorylation| |regulation of phosphorylation| |positive regulation of cellular protein metabolic process| |positive regulation of protein metabolic process| |positive regulation of molecular function| |regulation of phosphate metabolic process| |regulation of phosphorus metabolic process| |regulation of protein modification process| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 13837 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -2.69 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='DOK7 Expression in NALM6 Cells: -2.69'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1