Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= CHRND ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: CHRND * **<color #00a2e8>Official Name</color>**: cholinergic receptor nicotinic delta subunit * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1144|1144]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q07001|Q07001]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CHRND&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CHRND|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/100720|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]. * **<color #00a2e8>UniProt Summary</color>**: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. {ECO:0000269|PubMed:27375219}. <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'> |Neur chan memb| |Neur chan LBD| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |skeletal muscle tissue growth| |acetylcholine-gated cation-selective channel activity| |acetylcholine receptor activity| |acetylcholine-gated channel complex| |acetylcholine binding| |integral component of postsynaptic specialization membrane| |synaptic transmission, cholinergic| |skeletal muscle contraction| |neuromuscular synaptic transmission| |transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential| |musculoskeletal movement| |multicellular organismal movement| |extracellular ligand-gated ion channel activity| |response to nicotine| |excitatory postsynaptic potential| |chemical synaptic transmission, postsynaptic| |neuromuscular junction| |regulation of postsynaptic membrane potential| |neuromuscular process| |striated muscle contraction| |skeletal muscle tissue development| |skeletal muscle organ development| |postsynaptic membrane| |muscle contraction| |synapse| |striated muscle tissue development| |muscle organ development| |muscle tissue development| |muscle system process| |neuron projection| |developmental growth| |growth| |chemical synaptic transmission| |anterograde trans-synaptic signaling| |cell surface receptor signaling pathway involved in cell-cell signaling| |regulation of membrane potential| |trans-synaptic signaling| |synaptic signaling| |muscle structure development| |response to toxic substance| |cell junction| |cation transport| |ion transmembrane transport| |response to drug| |cell-cell signaling| |transmembrane transport| |ion transport| |nervous system process| |integral component of plasma membrane| |tissue development| |system process| </modal> \\ === CRISPR Data === <button type='primary' 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'> ^Screen^Score^ |[[:results:exp36|TRAIL 50ng/ml R00 exp36]]|-1.95| |[[:results:exp528|TGF-beta1 44ng/ml R08 exp528]]|1.76| |[[:results:exp112|S-DABN 8μM R03 exp112]]|1.98| </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: 1/739 ^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|1/17| |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>**: 3285 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.54 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='CHRND Expression in NALM6 Cells: -0.54'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1