RRAGB

Ras related GTP binding B, the group of Ras related GTP binding proteins

Basic information

Region (hg38): X:55717749-55758774

Links

ENSG00000083750

∙ NCBI:10325 ∙ OMIM:300725 ∙ HGNC:19901 ∙ Uniprot:Q5VZM2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

not_specified (20 variants)
not_provided (1 variants)
Autism (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RRAGB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006064.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			17 clinvar	1 clinvar		18
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	17	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RRAGB	protein_coding	protein_coding	ENST00000262850	11	41036

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.836	0.164	125169	2	0	125171	0.00000799

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.94	74	138	0.535	0.0000109	2494
Missense in Polyphen		10	32.37	0.30893		651
Synonymous	-0.385	49	45.7	1.07	0.00000330	668
Loss of Function	3.07	2	14.7	0.136	0.00000126	235

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000766	0.0000618
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000126	0.00000883
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade. Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form. In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. Involved in the RCC1/Ran-GTPase pathway. {ECO:0000269|PubMed:18497260, ECO:0000269|PubMed:20381137, ECO:0000269|PubMed:23723238, ECO:0000269|PubMed:9394008}.;
Pathway: mTOR signaling pathway - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Target Of Rapamycin (TOR) Signaling;Signal Transduction;Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;mTORC1-mediated signalling;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;TP53 Regulates Metabolic Genes;Macroautophagy;Cellular responses to external stimuli;Regulation of PTEN gene transcription;PTEN Regulation;PIP3 activates AKT signaling;Transcriptional Regulation by TP53;Intracellular signaling by second messengers;mTOR signaling pathway (Consensus)

Recessive Scores

pRec: 0.127

Intolerance Scores

loftool: 0.128
rvis_EVS: -0.14
rvis_percentile_EVS: 42.88

Haploinsufficiency Scores

pHI: 0.206
hipred: Y
hipred_score: 0.698
ghis: 0.635

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.781

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rragb
Phenotype: normal phenotype;

Gene ontology

Biological process: cell cycle arrest;cellular response to starvation;regulation of autophagy;regulation of macroautophagy;regulation of TOR signaling;positive regulation of TOR signaling;cellular response to amino acid starvation;cellular protein localization;cellular response to amino acid stimulus;positive regulation of TORC1 signaling;cellular response to leucine starvation
Cellular component: nucleus;cytoplasm;lysosome;lysosomal membrane;cytosol;EGO complex;Gtr1-Gtr2 GTPase complex
Molecular function: GTPase activity;protein binding;GTP binding;guanyl ribonucleotide binding;protein heterodimerization activity;GTPase binding