RIC3 (RIC3 acetylcholine receptor chaperone)

2014-11-01  

Identity

HGNC
RIC3
LOCATION
11p15.4
LOCUSID
79608
ALIAS
AYST720,PRO1385
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/img/favicon/apple-touch-icon.png