RAPSN (receptor associated protein of the synapse)

2018-02-01  

Identity

HGNC
LOCATION
11p11.2
LOCUSID
ALIAS
CMS11,CMS4C,FADS,FADS2,RAPSYN,RNF205

Other Information

Locus ID:

NCBI: 5913
MIM: 601592
HGNC: 9863
Ensembl: ENSG00000165917

Variants:

dbSNP: 5913
ClinVar: 5913
TCGA: ENSG00000165917
COSMIC: RAPSN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165917ENST00000298854Q13702
ENSG00000165917ENST00000298854A0A0S2Z4F8
ENSG00000165917ENST00000352508Q13702
ENSG00000165917ENST00000352508A0A0S2Z4M9
ENSG00000165917ENST00000524487E9PJP9
ENSG00000165917ENST00000529341E9PK11

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
117912052002Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.51
152823172004Regulation of the rapsyn promoter by kaiso and delta-catenin.43
126518692003E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.19
181799032008Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.19
196206122009Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.15
150363302004Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.11
275770812016DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA.10
280248422017Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.10
127307252003Identification of pathogenic mutations in the human rapsyn gene.9
169315112006Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.9

Citation

Dessen P

RAPSN (receptor associated protein of the synapse)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57297/rapsn