RRAD

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

Basic information

Region (hg38): 16:66921685-66925535

Links

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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 18.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_004165.3	NP_004156.1	4	yes	-
ENST00000299759.11	ENSP00000299759.6	4	yes	-
NM_001128850.2	NP_001122322.1	4	-	-
ENST00000566577.1	ENSP00000462559.1	4	-	-

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.

• not_specified (38 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. These statistics are base on transcript: NM_004165.3. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			37	1		38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	37	1	0

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
		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

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

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