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RRAD

RRAD, Ras related glycolysis inhibitor and calcium channel regulator, the group of RGK type GTPase family

Basic information

Region (hg38): 16:66921678-66925536

Links

ENSG00000166592NCBI:6236OMIM:179503HGNC:10446Uniprot:P55042AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • Brugada syndrome (Limited), mode of inheritance: AD

ClinVar

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

  • Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RRAD gene is commonly pathogenic or not.

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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
11
clinvar
11
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 11 0 0

Variants in RRAD

This is a list of pathogenic ClinVar variants found in the RRAD region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
16-66922086-G-A Inborn genetic diseases Uncertain significance (Feb 07, 2023)2457008
16-66922091-G-T Inborn genetic diseases Uncertain significance (Mar 23, 2023)2569044
16-66922152-C-T Inborn genetic diseases Uncertain significance (Aug 02, 2021)2209057
16-66922302-G-A Inborn genetic diseases Uncertain significance (May 02, 2023)2541981
16-66924885-C-A Inborn genetic diseases Uncertain significance (Aug 02, 2021)2228142
16-66924958-C-G Inborn genetic diseases Uncertain significance (Jul 17, 2023)2612292
16-66925016-G-T Inborn genetic diseases Uncertain significance (Aug 17, 2022)2349538
16-66925025-G-A Inborn genetic diseases Uncertain significance (Jun 27, 2022)2297957
16-66925060-C-T Inborn genetic diseases Uncertain significance (Dec 16, 2022)2353526
16-66925145-C-G Inborn genetic diseases Uncertain significance (Aug 09, 2021)2242100
16-66925158-T-C Inborn genetic diseases Uncertain significance (Jan 18, 2022)2272079

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RRADprotein_codingprotein_codingENST00000299759 43966
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.4390.555125740081257480.0000318
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.111421840.7700.00001301942
Missense in Polyphen7691.9510.82653868
Synonymous1.226275.40.8220.00000489671
Loss of Function2.3029.740.2055.01e-7117

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00004620.0000462
European (Non-Finnish)0.00001760.0000176
Middle Eastern0.000.00
South Asian0.0001310.000131
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: May play an important role in cardiac antiarrhythmia via the strong suppression of voltage-gated L-type Ca(2+) currents. Regulates voltage-dependent L-type calcium channel subunit alpha- 1C trafficking to the cell membrane (By similarity). Inhibits cardiac hypertrophy through the calmodulin-dependent kinase II (CaMKII) pathway. Inhibits phosphorylation and activation of CAMK2D. {ECO:0000250, ECO:0000269|PubMed:18056528}.;
Pathway
Insulin Signaling;Validated transcriptional targets of deltaNp63 isoforms (Consensus)

Recessive Scores

pRec
0.343

Intolerance Scores

loftool
0.278
rvis_EVS
-0.36
rvis_percentile_EVS
28.63

Haploinsufficiency Scores

pHI
0.403
hipred
Y
hipred_score
0.686
ghis
0.500

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.687

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rrad
Phenotype
homeostasis/metabolism phenotype; muscle phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan);

Gene ontology

Biological process
small GTPase mediated signal transduction;negative regulation of high voltage-gated calcium channel activity
Cellular component
plasma membrane
Molecular function
GTPase activity;calcium channel regulator activity;protein binding;calmodulin binding;GTP binding