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Gene: RAPSN (receptor associated protein of the synapse) Homo sapiens
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Symbol: RAPSN
Name: receptor associated protein of the synapse
Description: Exhibits acetylcholine receptor binding activity. Involved in cholinergic synaptic transmission. Localizes to the centrosome; cytosol; and plasma membrane. Implicated in congenital myasthenic syndrome 11.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 43 kda postsynaptic protein; 43 kDa receptor-associated protein of the synapse; acetylcholine receptor-associated 43 kda protein; CMS11; CMS1D; CMS1E; CMS4C; FADS; FADS2; MGC3597; rapsyn; receptor-associated protein of the synapse; RING finger protein 205; RNF205
Orthologs:
Mus musculus (house mouse) : Rapsn (receptor-associated protein of the synapse)  MGI  Alliance
Rattus norvegicus (Norway rat) : Rapsn (receptor-associated protein of the synapse)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Rapsn (receptor associated protein of the synapse)
Pan paniscus (bonobo/pygmy chimpanzee) : RAPSN (receptor associated protein of the synapse)
Canis lupus familiaris (dog) : RAPSN (receptor associated protein of the synapse)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Rapsn (receptor associated protein of the synapse)
Sus scrofa (pig) : RAPSN (receptor associated protein of the synapse)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1147,437,764 - 47,449,143 (-)Ensembl
GRCh381147,437,764 - 47,449,136 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371147,459,308 - 47,470,730 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361147,415,891 - 47,427,306 (-)NCBINCBI36hg18NCBI36
Build 341147,415,890 - 47,427,306NCBI
Celera1147,601,051 - 47,612,463 (-)NCBI
Cytogenetic Map11p11.2NCBI
HuRef1147,159,075 - 47,170,494 (-)NCBIHuRef
CHM1_11147,458,570 - 47,469,991 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on RAPSN
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1314835
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.