Gene: RAPSN

Alternate names for this Gene: CMS11|CMS4C|FADS|FADS2|RAPSYN|RNF205

Gene Summary: This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

Description of this Gene: receptor associated protein of the synapse

Type of Gene: protein-coding

rs375218091 in RAPSN gene and Arthrogryposis PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs7103648 in RAPSN gene and Diastolic blood pressure PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

rs375218091 in RAPSN gene and Early severe fetal akinesia sequence PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs3824867 in RAPSN gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3740685 in RAPSN gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7104036 in RAPSN gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs104894293 in RAPSN gene and MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY PMID 17594401 2007 Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.

PMID 16931511 2006 Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.

PMID 14504330 2003 Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

PMID 12929188 2003 Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

PMID 15036330 2004 Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.

PMID 12796535 2003 Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

PMID 12730725 2003 Identification of pathogenic mutations in the human rapsyn gene.

PMID 11791205 2002 Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

PMID 15328566 2004 Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.

PMID 24319099 2014 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

PMID 20157724 2010 Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

PMID 12807980 2003 Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

PMID 21305573 2011 Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.

PMID 25194721 2014 Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

PMID 15286164 2004 The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.

PMID 16945936 2006 Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 19620612 2009 Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

PMID 17190963 2006 Unusual features in a boy with the rapsyn N88K mutation.

PMID 15282317 2004 Regulation of the rapsyn promoter by kaiso and delta-catenin.

PMID 22326364 2012 A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.

PMID 15145336 2004 Distinct phenotypes of congenital acetylcholine receptor deficiency.

PMID 12651869 2003 E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.

rs104894299 in RAPSN gene and MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY PMID 14659409 2004 Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

PMID 17190963 2006 Unusual features in a boy with the rapsyn N88K mutation.

PMID 12730725 2003 Identification of pathogenic mutations in the human rapsyn gene.

PMID 12807980 2003 Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

PMID 15328566 2004 Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.

PMID 12796535 2003 Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

PMID 15482960 2004 A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

PMID 15036330 2004 Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.

PMID 19620612 2009 Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

PMID 20157724 2010 Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

PMID 11791205 2002 Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

PMID 21305573 2011 Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.

PMID 16945936 2006 Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

rs7104036 in RAPSN gene and Major Depressive Disorder PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs7104036 in RAPSN gene and Mood Disorders PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs104894299 in RAPSN gene and Myasthenic Syndromes, Congenital PMID 12807980 2003 Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

PMID 14729848 2004 Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.

PMID 12651869 2003 E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.

PMID 15482960 2004 A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

rs104894299 in RAPSN gene and Pena-Shokeir syndrome type I PMID 20157724 2010 Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

PMID 11791205 2002 Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

PMID 14504330 2003 Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

PMID 16945936 2006 Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

PMID 12796535 2003 Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

PMID 25194721 2014 Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

PMID 24319099 2014 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 21305573 2011 Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.

PMID 19620612 2009 Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

PMID 17594401 2007 Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.

PMID 15282317 2004 Regulation of the rapsyn promoter by kaiso and delta-catenin.

PMID 22326364 2012 A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.

PMID 15145336 2004 Distinct phenotypes of congenital acetylcholine receptor deficiency.

PMID 12651869 2003 E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.

rs3740685 in RAPSN gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3740685 in RAPSN gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7103648 in RAPSN gene and Systolic Pressure PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

rs12419342 in RAPSN gene and Tonometry PMID 25173106 2014 Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

rs34312154 in RAPSN gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.