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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5913
Gene name Gene Name - the full gene name approved by the HGNC.	Receptor associated protein of the synapse
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RAPSN
Synonyms (NCBI Gene) Gene synonyms aliases	CMS11, CMS4C, FADS, FADS2, RAPSYN, RNF205
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Akinesia	Fetal akinesia deformation sequence 2, Fetal akinesia deformation sequence 1	rs761584017, rs559933584, rs1555142142, rs765096923, rs104894294, rs886037842, rs104894300, rs201947904, rs560525099, rs1595903667, rs121909254, rs786200904, rs121909255, rs121909256, rs1479498379, rs759488854, rs104894299, rs786200905 View all (3 more)	N/A
Myasthenic Syndrome	Congenital myasthenic syndrome, Congenital myasthenic syndrome 11, Congenital myasthenic syndrome 4C	rs104894299, rs1555142142, rs104894294, rs761584017, rs886037842, rs201947904, rs121909254, rs767507908, rs104894300, rs786200904, rs1131691986, rs104894301, rs1595903667, rs121909255, rs1479498379 View all (4 more)	N/A
Hydrops Fetalis	hydrops fetalis	rs1131691986	N/A
Myopathy	myopathy	rs104894294, rs104894299	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Breast Cancer	BRCA1 mutation in breast cancer	N/A	N/A	GWAS
Developmental Delay	global developmental delay	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes or prostate cancer (pleiotropy)	N/A	N/A	GWAS
Glaucoma	Glaucoma	N/A	N/A	GWAS
Neuromuscular Diseases	neuromuscular disease	N/A	N/A	GenCC
Neuroticism	Neuroticism	N/A	N/A	GWAS

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)