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

ENSG00000166592 ∙ NCBI:6236 ∙ OMIM:179503 ∙ HGNC:10446 ∙ Uniprot:P55042 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed

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

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RRAD	protein_coding	protein_coding	ENST00000299759	4	3966

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.439	0.555	125740	0	8	125748	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.11	142	184	0.770	0.0000130	1942
Missense in Polyphen		76	91.951	0.82653		868
Synonymous	1.22	62	75.4	0.822	0.00000489	671
Loss of Function	2.30	2	9.74	0.205	5.01e-7	117

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.000163	0.000163

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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