Entity Details

Primary name RAPSN
Entity type gene
Source Source Link

Details

PrimaryID5913
RefseqGeneNG_008312
SymbolRAPSN
Namereceptor associated protein of the synapse
Chromosome11
Location11p11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRAPSN_HUMAN

GO terms

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GOName
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0007268 chemical synaptic transmission
GO:0007271 synaptic transmission, cholinergic
GO:0031594 neuromuscular junction
GO:0033130 acetylcholine receptor binding
GO:0035255 ionotropic glutamate receptor binding
GO:0043495 protein-membrane adaptor activity
GO:0043525 positive regulation of neuron apoptotic process
GO:0046872 metal ion binding
GO:0099634 postsynaptic specialization membrane
GO:1900075 positive regulation of neuromuscular synaptic transmission
GO:1901626 regulation of postsynaptic membrane organization
GO:1903540 establishment of protein localization to postsynaptic membrane

Diseases

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Disease IDSourceNameDescription
618388 OMIMFetal akinesia deformation sequence 2 (FADS2)A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS2 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
616326 OMIMMyasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11)A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS11 is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. The disease is caused by variants affecting the gene represented in this entry.