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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:P55042AlphaFoldGenCCjaxSfariGnomADPubmed

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 (7 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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 0
missense 7 7
nonsense 0
start loss 0
frameshift 0
inframe indel 0
splice variant 0
non coding 0
Total 0 0 7 0 0

Variants in RRAD

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

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

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