RAPSN Gene
protein-coding GIFtS: 59
GCID: GC11M047459
|
|
receptor-associated protein of the synapse(Previous names: receptor-associated protein of the synapse, 43kD )
| |
Aliases
for RAPSN gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Receptor-Associated Protein Of The Synapse1 2 | | CMS1E1 5 | | RNF2051 2 3 | | 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 | | RING Finger Protein 2052 3 | | RAPsyn3 | | CMS1D1 5 | | |
Export aliases for RAPSN gene to outside databasesPrevious GC identifers: GC11M049396 GC11M048337 GC11M047490 GC11M047423 GC11M047415 GC11M047159 |
Summaries
for RAPSN gene(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:
This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encodedprotein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role inclustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to theunderlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this genemay play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encodingmultiple isoforms have been observed for this gene. (provided by RefSeq, Apr 2011)
UniProtKB/Swiss-Prot: RAPSN_HUMAN, Q13702Function: 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 orspectrin
Gene Wiki entry for RAPSN
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_009237.18
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
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: 11p11.2RAPSN Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
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Proteins
for RAPSN gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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=Cytoplasmicsurface of postsynaptic membranes
Secondary accessions: Q8TDF3 Q9BTD9Alternative splicing: 2 isoforms: Q13702-1 Q13702-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for RAPSN: NX_Q13702
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q13702
RAPSN Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_005046.2 NP_116034.2
ENSEMBL proteins: ENSP00000298854 ENSP00000298853 ENSP00000435551 ENSP00000431732
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
RAPSN for ontologies About GeneDecksing
RAPSN Antibody Products:
Assay Products for RAPSN: |
Protein
Domains /
Families
for RAPSN gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RAPSN for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry Q13702ProtoNet protein and cluster: Q13702 3 Blocks protein families: IPB001237 43 kDa postsynaptic protein IPB001841 Zn-finger IPB011595 TPR-related region
UniProtKB/Swiss-Prot: RAPSN_HUMAN, Q13702Domain: A cysteine-rich region homologous to part of the regulatory domain of protein kinase C may be important ininteractions of this protein with the lipid bilayerSimilarity: Belongs to the RAPsyn familySimilarity: Contains 1 RING-type zinc fingerSimilarity: Contains 7 TPR repeats |
Function
for RAPSN gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: RAPSN_HUMAN, Q13702Function: 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 orspectrin Genatlas biochemistry entry for RAPSN:acetylcholine receptor associated protein,43kDa,rapsyn,involved in the clustering and anchoring the receptor in themembrane
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAPSN (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RAPSN (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): RAPSN (NM_032645) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RAPSN | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAPSN |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPSN |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
RAPSN for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Rapsntm1Jrs for RAPSN
4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Rapsn):
RAPSN for phenotypes About GeneDecksing
|
Pathways & Interactions
for RAPSN gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Agrin Interactions at Neuromuscular Junction | |
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RAPSN
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAPSN
STRING Interaction
Network Preview (showing 5 interactants - click image to see 8)
5/27 Interacting proteins for RAPSN (Q137023 ENSP000002988544) via UniProtKB, MINT, STRING, and/or I2D (see all 27)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
RAPSN for ontologies About GeneDecksing
|
Drugs & Compounds
for RAPSN gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, 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 Tocris compounds for RAPSN
10 Novoseek 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
|
Transcripts
for RAPSN gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
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_0050555 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000298854(uc001nfi.2 uc001nfj.2) ENST00000528356 ENST00000352508
ENST00000524487 ENST00000529341(uc009yls.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAPSN (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RAPSN (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): RAPSN (NM_032645) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RAPSN | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAPSN |
Additional cDNA sequence: AF449218.1 AK310002.1 BC004196.2 Z33905.1 2 DOTS entries: DT.92417907 DT.100000209 24/26 AceView cDNA sequences (see all 26): BM678213 NM_005055 NM_032645 BM724745 BM725200 AI269163 BU689638 BX108953 BE299731 BX392882 BQ576358 BU741397 BC004196 AF449218 BF304907 BF305136 BE295236 Z33905 AA449902 AW573099 AA449846 AA214254 AI282041 AA442720
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
|
Expression
for RAPSN gene
(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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAGAGGCCC
About this image
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
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RAPSN
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RAPSN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RAPSN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAPSN | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPSN |
Orthologs
for RAPSN gene
(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 7/15 species (see all 15) 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 |
-- |
83(a) |
1 ↔ 1 |
1(44188244-44207188) |
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
for RAPSN gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for RAPSN gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RAPSN (47459308 - 47470730 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RAPSN: --
Human Gene Mutation Database (HGMD): RAPSN
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RAPSN |
|
Disorders
/ Diseases
for RAPSN gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
RAPSN for disorders About GeneDecksing
OMIM gene information: 601592
OMIM disorders: 608931 208150
UniProtKB/Swiss-Prot: RAPSN_HUMAN, Q13702
Defects in RAPSN are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency(CMS-ACHRD) [MIM:608931]. A postsynaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) areinherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynapticproteins Defects in RAPSN are the cause of fetal akinesia deformation sequence (FADS) [MIM:208150]; also known asPena-Shokeir syndrome type 1 or fetal akinesia sequence or arthrogryposis multiplex congenita with pulmonaryhypoplasia. FADS is a rare condition characterized by decreased intrauterine fetal movement, congenital limbcontractures, pulmonary hypoplasia, polyhydramnios and craniofacial abnormalities
16  diseases for RAPSN: About MalaCardsmyasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency congenital myasthenic syndrome myasthenic syndrome fetal akinesia deformation sequence
arthrogryposis multiplex congenita pulmonary hypoplasia lambert-eaton myasthenic syndrome myasthenia gravis craniofacial abnormalities
arthrogryposis cystic lymphangioma myasthenia pterygium
polyhydramnios lymphangioma cholesterol neuronitis
2 diseases from the University of Copenhagen DISEASES database for RAPSN:Myopathy Neuropathy 4 Novoseek disease relationships for RAPSN gene About this table
GeneTests: RAPSN
Congenital Myasthenic Syndromes
Human Genome Epidemiology (HuGE) Navigator: RAPSN (1 document)
Export disorders for RAPSN gene to outside databases
|
Publications
for RAPSN gene (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 127):
(articles sorted by number of sources associating them with RAPSN) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. (PubMed id 16931511)1, 2, 9 Mueller J.S.... Lochmueller H. (2006)
- 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)
- Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. (PubMed id 11791205)1, 2, 9 Ohno K.... Milone M. (2002)
- 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)
- Identification of pathogenic mutations in the human rapsyn gene. (PubMed id 12730725)1, 2, 9 Dunne V. and Maselli R.A. (2003)
- 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)
- Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. (PubMed id 12929188)1, 2, 9 Maselli R.A.... Wollmann R.L. (2003)
- 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)
- 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)
|
External Searches for RAPSN gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RAPSN gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RAPSN gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RAPSN gene(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
|
| Name | Description |
| PharmGKB entry for RAPSN | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RAPSN |
|
| | |
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
|
Products
for RAPSN gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
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| | |  | OriGene Antibodies for RAPSN | | OriGene shRNA RFP for RAPSN | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RAPSN | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RAPSN | | | OriGene Protein Over-expression Lysate for RAPSN | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for RAPSN | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RAPSN | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAPSN | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for RAPSN | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for RAPSN | | OriGene Custom Protein Services for RAPSN | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RAPSN | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RAPSN | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAPSN | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RAPSN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAPSN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RAPSN |
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| | | | Search Tocris compounds for RAPSN |
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 | | | RAPSN Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPSN |
|  |  |  | | | | ThermoFisher Antibodies for RAPSN |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAPSN |
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