RIC3 (RIC3 acetylcholine receptor chaperone)

2014-11-01  

Identity

HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
AYST720,PRO1385
FUSION GENES

Other Information

Locus ID:

NCBI: 79608
MIM: 610509
HGNC: 30338
Ensembl: ENSG00000166405

Variants:

dbSNP: 79608
ClinVar: 79608
TCGA: ENSG00000166405
COSMIC: RIC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166405ENST00000309737Q7Z5B4
ENSG00000166405ENST00000335425Q7Z5B4
ENSG00000166405ENST00000335425A0A0S2Z6D3
ENSG00000166405ENST00000343202Q7Z5B4
ENSG00000166405ENST00000343202A0A0S2Z607
ENSG00000166405ENST00000419822Q7Z5B4
ENSG00000166405ENST00000425599Q7Z5B4
ENSG00000166405ENST00000526962E9PNI0
ENSG00000166405ENST00000528463E9PKX8
ENSG00000166405ENST00000531450E9PK46

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
384725142024Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech.0
384725142024Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech.0
366020872023Deletion induced splicing in RIC3 drives nicotinic acetylcholine receptor regulation with implications for endoplasmic reticulum stress in human astrocytes.0
366020872023Deletion induced splicing in RIC3 drives nicotinic acetylcholine receptor regulation with implications for endoplasmic reticulum stress in human astrocytes.0
345387072022RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts.0
345387072022RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts.0
321792432020RIC3, the cholinergic anti-inflammatory pathway, and neuroinflammation.7
321792432020RIC3, the cholinergic anti-inflammatory pathway, and neuroinflammation.7
281533812017RIC3 variants are not associated with Parkinson's disease in French-Canadians and French.4
286067682017Genetic analysis of the RIC3 gene in Han Chinese patients with Parkinson's disease.2
281533812017RIC3 variants are not associated with Parkinson's disease in French-Canadians and French.4
286067682017Genetic analysis of the RIC3 gene in Han Chinese patients with Parkinson's disease.2
270456302016Pentameric quaternary structure of the intracellular domain of serotonin type 3A receptors.8
270554762016Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes.11
270456302016Pentameric quaternary structure of the intracellular domain of serotonin type 3A receptors.8

Citation

Dessen P

RIC3 (RIC3 acetylcholine receptor chaperone)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72639/favicon/humanGenome