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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAPSN Gene

protein-coding   GIFtS: 60
GCID: GC11M047459

Receptor-Associated Protein Of The Synapse

(Previous names: receptor-associated protein of the synapse, 43kD)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Receptor-Associated Protein Of The Synapse1 2     Receptor-Associated Protein Of The Synapse, 43kD1
43 KDa Postsynaptic Protein2 3     43 KDa Receptor-Associated Protein Of The Synapse2
Acetylcholine Receptor-Associated 43 KDa Protein2 3     RAPSYN2
RNF2052 3     RAPsyn3
RING Finger Protein 2052 3     CMS1D5
rapsyn1     CMS1E5

External Ids:    HGNC: 98631   Entrez Gene: 59132   Ensembl: ENSG000001659177   OMIM: 6015925   UniProtKB: Q137023   

Export aliases for RAPSN gene to outside databases

Previous GC identifers: GC11M049396 GC11M048337 GC11M047490 GC11M047423 GC11M047415 GC11M047159


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 fetal akinesia deformation sequence, and rapsn-related congenital myasthenic syndrome. GO annotations related to this gene include ionotropic glutamate receptor binding and acetylcholine receptor binding.

UniProtKB/Swiss-Prot: RAPSN_HUMAN, Q13702
Function: Thought to play some role in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic
sites. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with
actin or spectrin

Gene Wiki entry for RAPSN Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAPSN gene promoter:
         Sox5   AML1a   MyoD   AP-4   FOXL1   GATA-2   SRY   FOXJ2 (long isoform)   FOXJ2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAPSN promoter sequence
   Search SABiosciences Chromatin IP Primers for RAPSN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAPSN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.2

RAPSN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAPSN gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M047459:  view genomic region     (about GC identifiers)

Start:
47,459,308 bp from pter      End:
47,470,730 bp from pter
Size:
11,423 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RAPSN_HUMAN, Q13702 (See protein sequence)
Recommended Name: 43 kDa receptor-associated protein of the synapse  
Size: 412 amino acids; 46328 Da
Subcellular location: 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
Secondary accessions: Q8TDF3 Q9BTD9
Alternative splicing: 2 isoforms:  Q13702-1   Q13702-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAPSN: NX_Q13702

Explore proteomics data for RAPSN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13702

  • RAPSN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RAPSN Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005046.2  NP_116034.2  

    ENSEMBL proteins: 
     ENSP00000298854   ENSP00000298853   ENSP00000435551   ENSP00000431732  

    Human Recombinant Protein Products for RAPSN: 
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    Novus Biologicals RAPSN Proteins
    Novus Biologicals RAPSN Lysates
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    Cloud-Clone Corp. Proteins for RAPSN 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane IDA--
    GO:0030054cell junction IEA--

    RAPSN for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RNF: RING-type (C3HC4) zinc fingers

    5/9 InterPro protein domains (see all 9):
     IPR018293 Postsynaptic_CS
     IPR001237 Postsynaptic
     IPR011990 TPR-like_helical
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q13702

    ProtoNet protein and cluster: Q13702

    3 Blocks protein domains:
    IPB001237 43 kDa postsynaptic protein
    IPB001841 Zn-finger
    IPB011595 TPR-related region


    UniProtKB/Swiss-Prot: RAPSN_HUMAN, Q13702
    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
    Similarity: Belongs to the RAPsyn family
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 7 TPR repeats


    RAPSN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAPSN_HUMAN, Q13702
    Function: Thought to play some role in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic
    sites. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with
    actin or spectrin

         Genatlas biochemistry entry for RAPSN:
    acetylcholine receptor associated protein,43kDa,rapsyn,involved in the clustering and anchoring the receptor in
    the membrane

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0033130acetylcholine receptor binding IDA18420419
    GO:0035255ionotropic glutamate receptor binding IEA--
         
    RAPSN for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rapsn):
     mortality/aging  muscle  nervous system  respiratory system 

    RAPSN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rapsntm1Jrs for RAPSN

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RAPSN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RAPSN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RAPSN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RAPSN 

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate RAPSN:
    hsa-miR-1276 hsa-miR-520d-5p hsa-miR-548k hsa-miR-524-5p hsa-miR-583
    SwitchGear 3'UTR luciferase reporter plasmidRAPSN 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RAPSN About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Agrin Interactions at Neuromuscular Junction
    Agrin Interactions at Neuromuscular Junction

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RAPSN
        Agrin Interactions at Neuromuscular Junction


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAPSN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/31 Interacting proteins for RAPSN (Q137023 ENSP000002988544) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096150P622693I2D: score=5 
    ENSG00000223367P622693I2D: score=5 
    ENSG00000226225P622693I2D: score=5 
    ENSG00000235650P622693I2D: score=5 
    RPS18P622693I2D: score=5 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268synaptic transmission TAS8812503
    GO:0007271synaptic transmission, cholinergic IGI18420419
    GO:0043525positive regulation of neuron apoptotic process IEA--

    RAPSN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RAPSN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RAPSN

    10 Novoseek inferred chemical compound relationships for RAPSN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetylcholine 82.5 59 14659409 (4), 15145336 (3), 11168526 (2), 12486121 (2) (see all 37)
    tyrosine 49.3 29 18436384 (6), 8918833 (4), 8630253 (2), 11278328 (1) (see all 15)
    phosphotyrosine 47.1 4 8730851 (2), 9647653 (1), 8918833 (1)
    choline 37.6 3 15034283 (1), 15367858 (1), 15907919 (1)
    herbimycin a 36 1 10400682 (1)
    sodium 8.4 5 9143560 (1), 15034283 (1), 15367858 (1), 9687350 (1) (see all 5)
    lipid 0 2 16932745 (1), 16672658 (1)
    calcium 0 2 18420419 (1)
    zinc 0 2 10698970 (1), 16675143 (1)
    potassium 0 1 10588389 (1)

    Search CenterWatch for drugs/clinical trials and news about RAPSN

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAPSN gene (2 alternative transcripts): 
    NM_005055.4  NM_032645.4  

    Unigene Cluster for RAPSN:

    Receptor-associated protein of the synapse
    Hs.81218  [show with all ESTs]
    Unigene Representative Sequence: NM_005055
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298854(uc001nfi.2 uc001nfj.2) ENST00000528356 ENST00000352508
    ENST00000524487 ENST00000529341(uc009yls.1)
    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate RAPSN:
    hsa-miR-1276 hsa-miR-520d-5p hsa-miR-548k hsa-miR-524-5p hsa-miR-583
    SwitchGear 3'UTR luciferase reporter plasmidRAPSN 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF449218.1 AK310002.1 BC004196.2 Z33905.1 

    2 DOTS entries:

    DT.92417907  DT.100000209 

    24/26 AceView cDNA sequences (see all 26):

    BM724745 BM678213 NM_032645 NM_005055 AF449218 BM725200 BX392882 BX108953 
    BU741397 BC004196 AI269163 BE299731 BQ576358 BU689638 BF304907 BE295236 
    BF305136 AW573099 Z33905 AA449902 AI282041 AA442720 AA214254 AA449846 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for RAPSN    About this scheme

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


    ECgene alternative splicing isoforms for RAPSN

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAPSN expression in normal human tissues (normalized intensities)      RAPSN embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGAGGCCC
    RAPSN Expression
    About this image


    RAPSN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Thalamus
             Anterior Olfactory Nucleus   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
             quadriceps   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   
     
     Bone (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Blood (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   

    See RAPSN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAPSN

    SOURCE GeneReport for Unigene cluster: Hs.81218
        SABiosciences Custom PCR Arrays for RAPSN
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPSN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RAPSN gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rapsn1 , 5 receptor-associated protein of the synapse1, 5 89.32(n)1
    96.12(a)1
      2 (50.44 cM)5
    194001  NM_009023.31  NP_033049.21 
     910356205 
    chicken
    (Gallus gallus)
    Aves RAPSN1 receptor-associated protein of the synapse 77.02(n)
    83.25(a)
      395986  NM_205097.1  NP_990428.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAPSN6
    Uncharacterized protein
    82(a)
    1 ↔ 1
    1(44186910-44207611)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF118817.12   -- 81.14(n)    AF118817.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rapsn2 receptor-associated protein of the synapse, 43kD 75.64(n)   352942  AB070208.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG19091 , 3 nicotinic acetylcholine
    receptor-associated protein3
    CG19091
    30(a)3
    43.06(n)1
    31.47(a)1
      102C23
    438001  NM_143671.21  NP_651928.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rpy-11 Protein RPY-1 42.06(n)
    33.17(a)
      174105  NM_062964.3  NP_495365.1 


    ENSEMBL Gene Tree for RAPSN (if available)
    TreeFam Gene Tree for RAPSN (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/365 SNPs in RAPSN are shown (see all 365)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0439024
    Fetal akinesia deformation sequence (FADS)4--see VAR_0439022 A V mis40--------
    VAR_0439004
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)4--see VAR_0439002 E K mis40--------
    VAR_0212164
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)4--see VAR_0212162 L P mis40--------
    VAR_0438984
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)4--see VAR_0438982 V M mis40--------
    VAR_0439034
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)4--see VAR_0439032 L P mis40--------
    VAR_0439014
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)4--see VAR_0439012 R C mis40--------
    VAR_0438994
    Fetal akinesia deformation sequence (FADS)4--see VAR_0438992 F S mis40--------
    rs1048942991,2,4
    C,FMyasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)4 pathogenic147395201(-) CTGAAC/ACTGGC 4 /K /N mis11Minor allele frequency- A:0.00NA 4534
    rs1048942931,2
    Cpathogenic147388797(-) CCGCCC/TGGGGC 3 P L mis1 int10--------
    rs1048943011,2
    Cpathogenic147388838(-) AGGTAA/CGACTC 3 * Y stg1 int10--------

    HapMap Linkage Disequilibrium report for RAPSN (47459308 - 47470730 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RAPSN:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv897323CNV Loss21882294
    nsv897325CNV Loss21882294
    nsv832141CNV Loss17160897


    Human Gene Mutation Database (HGMD): RAPSN
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601592   
    OMIM disorders: 608931  208150  
    UniProtKB/Swiss-Prot: RAPSN_HUMAN, Q13702
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)
    [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited
    disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic
    proteins. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Fetal akinesia deformation sequence (FADS) [MIM:208150]: Rare condition characterized by decreased
    intrauterine fetal movement, congenital limb contractures, pulmonary hypoplasia, polyhydramnios and craniofacial
    abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 18 diseases for RAPSN:    About MalaCards
    fetal akinesia deformation sequence    rapsn-related congenital myasthenic syndrome    craniofacial abnormalities    myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency
    arthrogryposis multiplex congenita pulmonary hypoplasia    rapsn-related fetal akinesia deformation sequence    congenital myasthenic syndrome    multiple pterygium syndrome lethal type
    myasthenia gravis    cystic lymphangioma    slow-channel congenital myasthenic syndrome    lambert-eaton myasthenic syndrome
    lymphangioma    polyhydramnios    pterygium    myopathy
    neuropathy    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for RAPSN:
    Myopathy     Neuropathy

    RAPSN for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for RAPSN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myasthenic syndromes congenital 95.3 19 16931511 (3), 15482960 (2), 15328566 (2), 17594401 (1) (see all 13)
    postsynaptic congenital myasthenic syndromes 94.7 4 12929188 (1), 15252722 (1), 19620612 (1), 15328566 (1)
    myasthenia gravis 66.7 8 16150851 (3), 17255332 (3), 12020474 (1)
    arthrogryposis 59 1 15328566 (1)

    GeneTests: RAPSN
    GeneReviews: RAPSN
    Genetic Association Database (GAD): RAPSN
    Human Genome Epidemiology (HuGE) Navigator: RAPSN (1 document)

    Export disorders for RAPSN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RAPSN gene, integrated from 9 sources (see all 129):
    (articles sorted by number of sources associating them with RAPSN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1. (PubMed id 8812503)1, 2, 3, 9 Buckel A.... Vincent A. (1996)
    2. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. (PubMed id 16931511)1, 2, 9 Mueller J.S.... Lochmueller H. (2006)
    3. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. (PubMed id 18179903)1, 2, 9 Vogt J.... Maher E.R. (2008)
    4. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. (PubMed id 11791205)1, 2, 9 Ohno K.... Milone M. (2002)
    5. Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. (PubMed id 15328566)1, 2, 9 Ioos C....Estournet-Mathiaud B. (2004)
    6. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. (PubMed id 12796535)1, 2, 9 Mueller J.S.... Abicht A. (2003)
    7. Identification of pathogenic mutations in the human rapsyn gene. (PubMed id 12730725)1, 2, 9 Dunne V. and Maselli R.A. (2003)
    8. Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. (PubMed id 12929188)1, 2, 9 Maselli R.A.... Wollmann R.L. (2003)
    9. Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. (PubMed id 15036330)1, 2 Banwell B.L.... Engel A.G. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5913 HGNC: 9863 AceView: RAPSN Ensembl:ENSG00000165917 euGenes: HUgn5913
    ECgene: RAPSN H-InvDB: RAPSN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAPSN Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RAPSN

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAPSN gene:
    Search GeneIP for patents involving RAPSN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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