RIC3

RIC3 acetylcholine receptor chaperone

Basic information

Region (hg38): 11:8106056-8169055

Links

ENSG00000166405NCBI:79608OMIM:610509HGNC:30338Uniprot:Q7Z5B4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • Parkinson disease (Limited), mode of inheritance: AD
  • movement disorder (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RIC3 gene.

  • not_specified (44 variants)
  • not_provided (5 variants)
  • RIC3-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIC3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001206671.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
44
clinvar
3
clinvar
1
clinvar
48
nonsense
1
clinvar
1
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
Total 0 0 46 3 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RIC3protein_codingprotein_codingENST00000309737 663006
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000002140.7231257090391257480.000155
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.6402201951.130.000009542397
Missense in Polyphen7171.1820.99744897
Synonymous-1.749071.31.260.00000363712
Loss of Function1.161116.00.6878.50e-7200

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003300.000329
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.00009240.0000924
European (Non-Finnish)0.0001420.000141
Middle Eastern0.00005440.0000544
South Asian0.0003290.000327
Other0.0003300.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Promotes functional expression of homomeric alpha-7 and alpha-8 nicotinic acetylcholine receptors at the cell surface. May also promote functional expression of homomeric serotoninergic 5- HT3 receptors, and of heteromeric acetylcholine receptors alpha- 3/beta-2, alpha-3/beta-4, alpha-4/beta-2 and alpha-4/beta-4. {ECO:0000269|PubMed:12821669, ECO:0000269|PubMed:15504725, ECO:0000269|PubMed:15809299, ECO:0000269|PubMed:15927954, ECO:0000269|PubMed:16120769, ECO:0000269|PubMed:17609200, ECO:0000269|PubMed:18691158}.;

Recessive Scores

pRec
0.103

Intolerance Scores

loftool
0.385
rvis_EVS
1.62
rvis_percentile_EVS
96

Haploinsufficiency Scores

pHI
0.0974
hipred
N
hipred_score
0.306
ghis
0.449

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.275

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ric3
Phenotype

Gene ontology

Biological process
protein folding;positive regulation of cytosolic calcium ion concentration;synaptic transmission, cholinergic;protein localization to cell surface;cellular protein-containing complex assembly
Cellular component
Golgi membrane;endoplasmic reticulum membrane;integral component of membrane;neuron projection;neuronal cell body;intracellular membrane-bounded organelle
Molecular function
acetylcholine receptor binding;protein folding chaperone