RAPSN Gene (Protein Coding)

Receptor Associated Protein Of The Synapse

GC11M059697
GIFtS:
41
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, possib... See more...

Aliases for RAPSN Gene

Aliases for RAPSN Gene

  • Receptor Associated Protein Of The Synapse 2 3 5
  • 43 KDa Receptor-Associated Protein Of The Synapse 3 4
  • RING Finger Protein 205 3 4
  • RNF205 3 4
  • Acetylcholine Receptor-Associated 43 Kda Protein 3
  • Acetylcholine Receptor-Associated 43 KDa Protein 4
  • Receptor-Associated Protein Of The Synapse, 43kD 2
  • 43 Kda Postsynaptic Protein 3
  • 43 KDa Postsynaptic Protein 4
  • RAPSYN 3
  • RAPsyn 4
  • Rapsyn 2
  • CMS11 3
  • CMS4C 3
  • FADS2 3
  • FADS 3

External Ids for RAPSN Gene

Previous GeneCards Identifiers for RAPSN Gene

  • GC11M049396
  • GC11M048337
  • GC11M047490
  • GC11M047423
  • GC11M047415
  • GC11M047459
  • GC11M047159
  • GC11M047572
  • GC11M047950
  • GC11M055816
  • GC11M056041
  • GC11M056181
  • GC11M050801
  • GC11M051596
  • GC11M052258
  • GC11M052918
  • GC11M053586
  • GC11M054252
  • GC11M054918
  • GC11M055618

Summaries for RAPSN Gene

Entrez Gene Summary for RAPSN 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 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. [provided by RefSeq, Apr 2011]

GeneCards Summary for RAPSN Gene

RAPSN (Receptor Associated Protein Of The Synapse) is a Protein Coding gene. Diseases associated with RAPSN include Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency and Fetal Akinesia Deformation Sequence 2. Among its related pathways are Agrin Interactions at Neuromuscular Junction. Gene Ontology (GO) annotations related to this gene include ionotropic glutamate receptor binding and acetylcholine receptor binding. An important paralog of this gene is TTC24.

UniProtKB/Swiss-Prot Summary for RAPSN Gene

  • 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.

Gene Wiki entry for RAPSN Gene

Additional gene information for RAPSN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAPSN Gene

Genomics for RAPSN Gene

GeneHancer (GH) Regulatory Elements for RAPSN Gene

Promoters and enhancers for RAPSN Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J047447 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 508.4 +0.4 388 2 USF1 RXRA KDM1A HNF4A REST AGO2 HNRNPL SP1 HNF4G RAPSN FNBP4 PSMC3 lnc-PSMC3-2
GH11J047498 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 11.3 -50.3 -50301 1.4 MXI1 FOXA2 WT1 NFIC ZBTB33 RBM22 SPI1 NR2F2 USF1 JUND CELF1 NDUFS3 PTPMT1 RAPSN ENSG00000231880 RNU5E-10P KBTBD4 FAM180B C1QTNF4 MTCH2
GH11J047488 Promoter/Enhancer 1.1 EPDnew Ensembl dbSUPER 11.4 -40.5 -40523 1.8 ZNF316 NFE2 MAFK MAFG RXRA HNF4A MAFF ZNF384 NFE2L2 SP1 CELF1 RAPSN NDUFS3 ENSG00000231880 RNU5E-10P MTCH2 AGBL2 PTPRJ lnc-RAPSN-5 ENSG00000270072
GH11J047476 Enhancer 0.8 Ensembl ENCODE dbSUPER 12.1 -28.6 -28614 1.6 FOS PBX2 FOSL1 GATA2 MEIS2 GATA1 SPI1 lnc-RAPSN-4 RAPSN CELF1 NDUFS3 PTPMT1 C1QTNF4 ENSG00000231880 RNU5E-10P MTCH2 piR-45035-034
GH11J047175 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.1 +271.4 271438 4.7 HNRNPK ZNF217 EP300 CTCF SIN3A POLR2G SP1 NCOR1 GTF2E2 PHF8 ARFGAP2 MIR6745 lnc-PACSIN3-1 NUP160 FNBP4 ENSG00000200090 ENSG00000270060 DDB2 ENSG00000244313 ZNF408
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAPSN on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAPSN

Top Transcription factor binding sites by QIAGEN in the RAPSN gene promoter:
  • AML1a
  • AP-4
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • GATA-2
  • MyoD
  • RSRFC4
  • Sox5
  • SRY

Genomic Locations for RAPSN Gene

Genomic Locations for RAPSN Gene
chr11:47,437,757-47,449,178
(GRCh38/hg38)
Size:
11,422 bases
Orientation:
Minus strand
chr11:47,459,308-47,470,730
(GRCh37/hg19)
Size:
11,423 bases
Orientation:
Minus strand

Genomic View for RAPSN Gene

Genes around RAPSN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAPSN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAPSN Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RAPSN Gene

Proteins for RAPSN Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for RAPSN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13702-RAPSN_HUMAN
    Recommended name:
    43 kDa receptor-associated protein of the synapse
    Protein Accession:
    Q13702
    Secondary Accessions:
    • Q8TDF3
    • Q9BTD9

    Protein attributes for RAPSN Gene

    Size:
    412 amino acids
    Molecular mass:
    46328 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RAPSN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAPSN Gene

Protein Expression for RAPSN Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RAPSN Gene

  • Ubiquitinated by the BCR(KLHL8) complex, leading to its degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAPSN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAPSN Gene

Domains & Families for RAPSN Gene

Gene Families for RAPSN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RAPSN Gene

Blocks:
  • Zn-finger, RING
  • 43 kDa postsynaptic protein
  • TPR-related region
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAPSN Gene

GenScript: Design optimal peptide antigens:
  • RING finger protein 205 (RAPSN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13702

UniProtKB/Swiss-Prot:

RAPSN_HUMAN :
  • A cysteine-rich region homologous to part of the regulatory domain of protein kinase C may be important in interactions of this protein with the lipid bilayer.
  • Belongs to the RAPsyn family.
Domain:
  • A cysteine-rich region homologous to part of the regulatory domain of protein kinase C may be important in interactions of this protein with the lipid bilayer.
Family:
  • Belongs to the RAPsyn family.
genes like me logo Genes that share domains with RAPSN: view

Function for RAPSN Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for RAPSN Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
acetylcholine receptor associated protein,43kDa,rapsyn,involved in the clustering and anchoring the receptor in the membrane

Phenotypes From GWAS Catalog for RAPSN Gene

Gene Ontology (GO) - Molecular Function for RAPSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033130 acetylcholine receptor binding IEA,IDA 18420419
GO:0035255 ionotropic glutamate receptor binding IEA --
GO:0043495 protein membrane anchor IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RAPSN: view
genes like me logo Genes that share phenotypes with RAPSN: view

Human Phenotype Ontology for RAPSN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAPSN Gene

MGI Knock Outs for RAPSN:
  • Rapsn Rapsn<tm1Jrs>
  • Rapsn Rapsn<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAPSN

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RAPSN Gene

Localization for RAPSN Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAPSN Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of postsynaptic membranes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAPSN gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
golgi apparatus 3
extracellular 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAPSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005813 centrosome IDA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with RAPSN: view

Pathways & Interactions for RAPSN Gene

PathCards logo

SuperPathways for RAPSN Gene

SuperPathway Contained pathways
1 Agrin Interactions at Neuromuscular Junction
Agrin Interactions at Neuromuscular Junction
-
genes like me logo Genes that share pathways with RAPSN: view

Pathways by source for RAPSN Gene

1 Qiagen pathway for RAPSN Gene
  • Agrin Interactions at Neuromuscular Junction

Gene Ontology (GO) - Biological Process for RAPSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 chemical synaptic transmission TAS,IEA 8812503
GO:0007271 synaptic transmission, cholinergic IGI 18420419
GO:0043525 positive regulation of neuron apoptotic process IEA --
GO:1900075 positive regulation of neuromuscular synaptic transmission IEA --
GO:1901626 regulation of postsynaptic membrane organization IEA --
genes like me logo Genes that share ontologies with RAPSN: view

No data available for SIGNOR curated interactions for RAPSN Gene

Drugs & Compounds for RAPSN Gene

Products:

  1. Drug

(7) Drugs for RAPSN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for RAPSN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAPSN: view

Transcripts for RAPSN Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RAPSN Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAPSN

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAPSN Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: - -

Relevant External Links for RAPSN Gene

GeneLoc Exon Structure for
RAPSN

Expression for RAPSN Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAPSN Gene

mRNA expression in normal human tissues for RAPSN Gene
mRNA expression by GTEx for RAPSN GenemRNA expression by BioGPS for RAPSN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAPSN Gene

This gene is overexpressed in Muscle - Skeletal (x38.9).

Protein differential expression in normal tissues from HIPED for RAPSN Gene

This gene is overexpressed in Ovary (63.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RAPSN Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAPSN

SOURCE GeneReport for Unigene cluster for RAPSN Gene:

Hs.81218

Evidence on tissue expression from TISSUES for RAPSN Gene

  • Muscle(4.7)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAPSN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • kidney
  • liver
  • stomach
Pelvis:
  • pelvis
  • placenta
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RAPSN: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for RAPSN Gene

Orthologs for RAPSN Gene

This gene was present in the common ancestor of animals.

Orthologs for RAPSN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia RAPSN 31 30
  • 99.27 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia RAPSN 31 30
  • 93.12 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia RAPSN 31 30
  • 92.8 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Rapsn 30
  • 89.6 (n)
mouse
(Mus musculus)
 Mammalia Rapsn 17 31 30
  • 89.32 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia RAPSN 31
  • 83 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves RAPSN 31 30
  • 77.02 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia RAPSN 31
  • 82 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia rapsn 30
  • 77.18 (n)
zebrafish
(Danio rerio)
 Actinopterygii rapsn 31 30 30
  • 71.36 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG1909 31 32 30
  • 43.23 (n)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea rpy-1 31 30
  • 43.3 (n)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 40 (a)
 OneToMany
-- 31
  • 27 (a)
 OneToMany
Species where no ortholog for RAPSN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAPSN Gene

ENSEMBL:
Gene Tree for RAPSN (if available)
TreeFam:
Gene Tree for RAPSN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAPSN: view image

Paralogs for RAPSN Gene

Paralogs for RAPSN Gene

genes like me logo Genes that share paralogs with RAPSN: view

Variants for RAPSN Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAPSN Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
567634 Uncertain Significance: Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 47,448,147(-) C/T MISSENSE_VARIANT
571961 Uncertain Significance: Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 47,441,887(-) C/T MISSENSE_VARIANT
582364 Uncertain Significance: Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 47,448,906(-) T/A MISSENSE_VARIANT
639207 Uncertain Significance: Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 47,441,837(-) G/C MISSENSE_VARIANT
639907 Uncertain Significance: Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 47,448,804(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RAPSN Gene

Structural Variations from Database of Genomic Variants (DGV) for RAPSN Gene

Variant ID Type Subtype PubMed ID
nsv832141 CNV loss 17160897

Variation tolerance for RAPSN Gene

Residual Variation Intolerance Score: 36.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.76; 73.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAPSN Gene

Human Gene Mutation Database (HGMD)
RAPSN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAPSN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAPSN Gene

Disorders for RAPSN Gene

MalaCards: The human disease database

(24) MalaCards diseases for RAPSN Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RAPSN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAPSN_HUMAN
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326]: 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. {ECO:0000269 PubMed:11791205, ECO:0000269 PubMed:12730725, ECO:0000269 PubMed:12796535, ECO:0000269 PubMed:12929188, ECO:0000269 PubMed:14504330, ECO:0000269 PubMed:15036330, ECO:0000269 PubMed:15328566, ECO:0000269 PubMed:16931511, ECO:0000269 PubMed:17594401}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Fetal akinesia deformation sequence 2 (FADS2) [MIM:618388]: 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. {ECO:0000269 PubMed:18179903, ECO:0000269 PubMed:18252226}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RAPSN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAPSN: view

No data available for Genatlas for RAPSN Gene

Publications for RAPSN Gene

  1. Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1. (PMID: 8812503) Buckel A … Vincent A (Genomics 1996) 2 3 4 23 54
  2. Control of rapsyn stability by the CUL-3-containing E3 ligase complex. (PMID: 19158078) Nam S … Lee J (The Journal of biological chemistry 2009) 3 4 23 54
  3. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. (PMID: 18179903) Vogt J … Maher ER (American journal of human genetics 2008) 3 4 23 54
  4. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. (PMID: 16931511) Müller JS … Lochmüller H (Neurology 2006) 3 4 23 54
  5. Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. (PMID: 15328566) Ioos C … Estournet-Mathiaud B (Neuropediatrics 2004) 3 4 23 54

ExternalLinks

View latest publications for RAPSN gene in Mastermind

Products for RAPSN Gene

Sources for RAPSN Gene