Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	5913
Gene name	Receptor associated protein of the synapse
Gene symbol	RAPSN
Synonyms (NCBI Gene)	CMS11CMS4CFADSFADS2RAPSYNRNF205
Chromosome	11
Chromosome location	11p11.2
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 nic

Show/Hide all (33)

SNP ID	Visualize variation	Clinical significance	Consequence
rs45547231	G>A,T	Benign, likely-benign, pathogenic	Intron variant
rs56040810	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs56245238	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs104894293	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs104894294	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104894299	G>T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs104894300	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894301	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, intron variant
rs121909254	C>A,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121909255	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909256	A>G	Pathogenic	Coding sequence variant, missense variant
rs121909257	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs201947904	C>A,G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs375218091	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs559933584	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs560525099	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs757215612	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs767507908	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786200904	->AACAG	Pathogenic	Frameshift variant, coding sequence variant
rs786200905	T>C	Pathogenic	Upstream transcript variant
rs786205885	->AG	Pathogenic	Frameshift variant, coding sequence variant
rs863224911	T>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs863224912	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs886037842	G>C	Pathogenic	Upstream transcript variant
rs886041841	CTG>TTA	Pathogenic	Stop gained, coding sequence variant, intron variant
rs886043559	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1040279711	G>A,T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1131691986	TGTGA>CCATCTCCTTGTAGCGGCCCATCT	Pathogenic	Coding sequence variant, frameshift variant
rs1479498379	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555142142	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555142603	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1595902947	T>G	Pathogenic	Splice acceptor variant
rs1595903667	G>A	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	8812503
GO:0007271	Process	Synaptic transmission, cholinergic	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	IGI	18420419
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0031594	Component	Neuromuscular junction	IBA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0033130	Function	Acetylcholine receptor binding	IBA
GO:0033130	Function	Acetylcholine receptor binding	IDA	18420419
GO:0033130	Function	Acetylcholine receptor binding	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	IEA
GO:0043495	Function	Protein-membrane adaptor activity	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071340	Process	Skeletal muscle acetylcholine-gated channel clustering	IEA
GO:0097049	Process	Motor neuron apoptotic process	IEA
GO:0098879	Function	Structural constituent of postsynaptic specialization	IEA
GO:0098880	Process	Maintenance of postsynaptic specialization structure	IEA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:0099645	Process	Neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:1900075	Process	Positive regulation of neuromuscular synaptic transmission	IBA
GO:1900075	Process	Positive regulation of neuromuscular synaptic transmission	IEA
GO:1901626	Process	Regulation of postsynaptic membrane organization	IEA
GO:1903540	Process	Establishment of protein localization to postsynaptic membrane	IEA
GO:2000673	Process	Positive regulation of motor neuron apoptotic process	IEA

MIM	HGNC	e!Ensembl
601592	9863	ENSG00000165917

Q13702

Protein name

43 kDa receptor-associated protein of the synapse (RAPsyn) (43 kDa postsynaptic protein) (Acetylcholine receptor-associated 43 kDa protein) (RING finger protein 205)

Protein function

Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10579	Rapsyn_N	1 → 80	Rapsyn N-terminal myristoylation and linker region	Family
PF17874	TPR_MalT	136 → 360	MalT-like TPR region	Domain
PF13639	zf-RING_2	361 → 403	Ring finger domain	Domain

Sequence

MGQDQTKQQIEKGLQLYQSNQTEKALQVWTKVLEKSSDLMGRFRVLGCLVTAHSEMGRYK
EMLKFAVVQIDTARELEDADFLLESYLNLARSNEKLCEFHKTISYCKTCLGLPGTRAGAQ
LGGQVSLSMGNAFLGLSVFQKALESFEKALRYAHNNDDAMLECRVCCSLGSFYAQVKDYE
KALFFPCKAAELVNNYGKGWSLKYRAMSQYHMAVAYRLLGRLGSAMECCEESMKIALQHG
DRPLQALCLLCFADIHRSRGDLETAFPRYDSAMSIMTEIGNRLGQVQALLGVAKCWVARK
ALDKALDAIERAQDLAEEVGNKLSQLKLHCLSESIYRSKGLQRELRAHVVRFHECVEETE
LYCGLCGESIGEKNSRLQALPCSHIFHLRCLQNNGTRSCPNCRRSSMKPGFV

Sequence length

412

Interactions

View interactions

1549

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs786200905	RCV001813966
Congenital myasthenic syndrome	Likely pathogenic; Pathogenic	rs1421354085, rs749287203, rs104894294, rs2153308170, rs2496086825, rs786205885, rs104894299, rs786200905, rs121909254, rs886037842, rs767507908, rs1131691986, rs1479498379, rs1555142142, rs201947904 View all (3 more)	RCV001826152 RCV001826172 RCV004801090 RCV004782844 RCV005608855 RCV001826868 RCV000235028 RCV000235034 RCV001275253 RCV000235022 RCV001833532 RCV002298624 RCV003114675 RCV001275241 RCV001830818 RCV001836056 RCV001832551 RCV005432564
Congenital myasthenic syndrome 11	Likely pathogenic; Pathogenic	rs2153308410, rs1421354085, rs1262674788, rs1595899478, rs2153311231, rs749287203, rs2153311780, rs2153311290, rs2153309050, rs375218091, rs2076423585, rs2153311310, rs104894294, rs2076368388, rs760999895 View all (56 more)	RCV001377328 RCV001379323 RCV001390845 RCV001385002 RCV001382472 RCV001387007 RCV001387008 RCV002541162 RCV001868867 RCV002034290 RCV001929616 RCV001941764 RCV001938528 RCV001923478 RCV001950912 RCV001972700 RCV001892251 RCV002018846 RCV002000681 RCV002032986 RCV001956321 RCV001899155 RCV001909290 RCV003058311 RCV003062376 RCV003062377 RCV000170473 RCV003091624 RCV003079119 RCV002579002 RCV003090311 RCV003121739 RCV001313406 RCV002792011 RCV002810112 RCV002885426 RCV002976462 RCV003023050 RCV000170316 RCV000008513 RCV000008514 RCV000008516 RCV000008517 RCV000008520 RCV000008521 RCV000008522 RCV003224949 RCV001215451 RCV004818347 RCV005051316 RCV003779089 RCV003779090 RCV003779091 RCV003780098 RCV003806520 RCV003791216 RCV003802714 RCV003801835 RCV003818016 RCV003809794 RCV003810400 RCV001861510 RCV002519529 RCV000542391 RCV000534807 RCV001861675 RCV001232917 RCV000822748 RCV001225209 RCV002290990 RCV001050927 RCV001061762 RCV001066055 RCV001219154 RCV001224618 RCV001209146
Congenital myasthenic syndrome 4C	Likely pathogenic; Pathogenic	rs104894299	RCV000008512
Fetal akinesia deformation sequence 1	Likely pathogenic; Pathogenic	rs2153308410, rs1421354085, rs1262674788, rs1595899478, rs2153311231, rs749287203, rs2153311780, rs2153311290, rs2153309050, rs375218091, rs2076423585, rs2153311310, rs104894294, rs2076368388, rs760999895 View all (51 more)	RCV001377328 RCV001379323 RCV001390845 RCV001385002 RCV001382472 RCV001387007 RCV001387008 RCV002541162 RCV001868867 RCV002034290 RCV001929616 RCV001941764 RCV001938528 RCV001923478 RCV001950912 RCV001972700 RCV001892251 RCV002018846 RCV002000681 RCV002032986 RCV001956321 RCV001899155 RCV001909290 RCV003058311 RCV003062376 RCV003062377 RCV003091624 RCV003079119 RCV002579002 RCV003090311 RCV003121739 RCV001313406 RCV002792011 RCV002810112 RCV002885426 RCV002976462 RCV003023050 RCV000286918 RCV001851738 RCV002512910 RCV000664547 RCV001343279 RCV000704275 RCV001231489 RCV001215451 RCV003779088 RCV003779089 RCV003779090 RCV003779091 RCV003780098 RCV003806520 RCV003791216 RCV003802714 RCV003801835 RCV003818016 RCV003809794 RCV003810400 RCV001861510 RCV002519529 RCV000542391 RCV000534807 RCV001861675 RCV001232917 RCV000822748 RCV001225209 RCV001050927 RCV001061762 RCV001066055 RCV001219154 RCV001224618 RCV001209146
Fetal akinesia deformation sequence 2	Likely pathogenic; Pathogenic	rs1421354085, rs1595899478, rs2153311231, rs749287203, rs2153311780, rs2153311290, rs2153309050, rs2076368388, rs760999895, rs2153308170, rs1475015182, rs2496086825, rs786205885, rs559933584, rs104894299 View all (35 more)	RCV003462961 RCV003463001 RCV003469677 RCV005050369 RCV003463017 RCV003464136 RCV005050409 RCV003464238 RCV003464308 RCV003464355 RCV005050420 RCV003465922 RCV005049454 RCV003462285 RCV003466838 RCV003460439 RCV004566695 RCV001824563 RCV003466839 RCV002476946 RCV003460443 RCV000008524 RCV003469194 RCV003234959 RCV003471785 RCV003471786 RCV003471787 RCV003471788 RCV003463451 RCV003471789 RCV003463452 RCV003471790 RCV003463453 RCV003463455 RCV003471791 RCV003463456 RCV003471792 RCV004573334 RCV004574690 RCV005049547 RCV002466497 RCV003470767 RCV002280820 RCV003461050 RCV003461280 RCV003467548 RCV003467761 RCV003462591 RCV005049757 RCV003462765
Hydrops fetalis	Pathogenic	rs1131691986, rs2076335306	RCV001257395 RCV001257394
Myopathy	Likely pathogenic; Pathogenic	rs104894299, rs104894294	RCV000414829 RCV000415079
RAPSN-related disorder	Likely pathogenic; Pathogenic	rs104894299, rs786200904, rs121909255, rs560525099, rs1555142142, rs759488854	RCV004732539 RCV004532313 RCV005632171 RCV001731679 RCV005632582 RCV004536097

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs863224911, rs863224912	-
Acute myeloid leukemia	Benign	rs45617144	RCV005892984
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity	rs375218091, rs1040279711	RCV000855473 RCV000855474
Cholangiocarcinoma	Benign	rs34729771	RCV005868035
Congenital Myasthenic Syndrome, Recessive	Benign; Uncertain significance	rs34729771, rs886048384, rs886048390, rs545915312, rs759559668, rs757221861	RCV000288381 RCV000306844 RCV000387238 RCV000386023 RCV000309783 RCV000388269
Global developmental delay	Conflicting classifications of pathogenicity	rs104894293	RCV001255415
Lung cancer	Benign	rs34729771	RCV005868036
Malignant lymphoma, large B-cell, diffuse	Benign	rs45617144	RCV005892986
Nonpapillary renal cell carcinoma	Benign	rs45617144	RCV005892985
Thymoma	Benign	rs45617144	RCV005892987
Uterine carcinosarcoma	Benign	rs34729771	RCV005868034

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	27577081, 40430008
Cognition Disorders	Associate	27273350
Congenital myasthenic syndrome ib	Associate	27966543
Congenital myasthenic syndrome with episodic apnea	Associate	29189923
Coronary Artery Disease	Associate	18842780
Depressive Disorder	Associate	27273350
Dermatitis Atopic	Associate	26633493
Diabetes Mellitus Type 2	Associate	33290408
Drug Hypersensitivity	Associate	26633493
Eczema	Associate	26633493
Fetal akinesia syndrome X linked	Associate	18179903
Glaucoma	Associate	32528159
Hernia Diaphragmatic	Associate	36591657
Hypomagnesemia primary	Associate	34321601
Inflammation	Associate	18842780
Jaw Diseases	Associate	19620612
Lumbar Stenosis Familial	Associate	23365176
Melanoma	Inhibit	37481560
Multiple pterygium syndrome	Associate	18179903
Muscular Dystrophies Limb Girdle	Associate	27966543
Myasthenic syndrome congenital type Id	Associate	19620612
Myasthenic Syndrome Congenital with Facial Dysmorphism associated with Acetylcholine Receptor Deficiency	Associate	36591657
Myasthenic Syndromes Congenital	Associate	18179903, 19620612, 20562457, 20930056, 23365176, 26927095, 27966543, 28024842, 31226102, 33465529, 36591657
Neoplasms	Associate	40430008
Obesity	Associate	29795460, 32741103
Pena Shokeir syndrome type 1	Associate	25537362, 33168876
Prostatic Neoplasms	Associate	33290408, 40430008
Respiratory Insufficiency	Associate	36591657
Sleep Wake Disorders	Associate	37076741
Stomach Neoplasms	Associate	29491470
Vascular System Injuries	Associate	18842780

RAPSN (receptor associated protein of the synapse)