RHOG

ras homolog family member G, the group of Rho family GTPases

Basic information

Region (hg38): 11:3826978-3840959

Previous symbols: [ "ARHG" ]

Links

ENSG00000177105

∙ NCBI:391 ∙ OMIM:179505 ∙ HGNC:672 ∙ Uniprot:P84095 ∙ 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 RHOG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHOG 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			4 clinvar			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in RHOG

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

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

Position	Phenotype	Significance	ClinVar
11-3827618-C-T	not specified	Uncertain significance (May 24, 2024)	3314221
11-3827631-C-T	not specified	Uncertain significance (Sep 22, 2021)	2354758
11-3827718-G-T	not specified	Uncertain significance (Dec 20, 2023)	3154083
11-3827860-C-T		Uncertain significance (Oct 01, 2024)	3389814
11-3827993-C-T	not specified	Uncertain significance (Aug 16, 2021)	2245825
11-3828006-C-T	RHOG-related condition	Likely benign (Apr 29, 2024)	3350246
11-3828104-C-T	Inborn genetic diseases	Uncertain significance (Aug 29, 2017)	985151

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RHOG	protein_coding	protein_coding	ENST00000351018	1	14006

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.430	0.541	125742	0	2	125744	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.49	49	128	0.381	0.00000906	1225
Missense in Polyphen		16	57.178	0.27983		639
Synonymous	-2.44	82	58.3	1.41	0.00000460	401
Loss of Function	1.74	1	5.34	0.187	2.30e-7	59

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Required for the formation of membrane ruffles during macropinocytosis. Plays a role in cell migration and is required for the formation of cup-like structures during trans-endothelial migration of leukocytes. In case of Salmonella enterica infection, activated by SopB and ARHGEF26/SGEF, which induces cytoskeleton rearrangements and promotes bacterial entry. {ECO:0000269|PubMed:15133129, ECO:0000269|PubMed:17074883, ECO:0000269|PubMed:17875742, ECO:0000269|PubMed:20679435}.;
Pathway: Salmonella infection - Homo sapiens (human);Bacterial invasion of epithelial cells - Homo sapiens (human);Shigellosis - Homo sapiens (human);miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Signaling by GPCR;Neutrophil degranulation;Signal Transduction;RHO GTPases activate KTN1;Innate Immune System;Immune System;Rho GTPase cycle;GPVI-mediated activation cascade;Platelet activation, signaling and aggregation;RHO GTPase Effectors;Signaling by Rho GTPases;Hemostasis;G alpha (12/13) signalling events;Integrin-linked kinase signaling;GPCR downstream signalling;Neurotrophic factor-mediated Trk receptor signaling (Consensus)

Recessive Scores

pRec: 0.218

Intolerance Scores

loftool: 0.0878
rvis_EVS: 0.04
rvis_percentile_EVS: 56.64

Haploinsufficiency Scores

pHI: 0.589
hipred: Y
hipred_score: 0.767
ghis: 0.523

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.736

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rhog
Phenotype: immune system phenotype; hematopoietic system phenotype;

Gene ontology

Biological process: actin filament organization;establishment or maintenance of cell polarity;Rho protein signal transduction;positive regulation of cell population proliferation;regulation of cell shape;Rac protein signal transduction;actin cytoskeleton organization;regulation of actin cytoskeleton organization;neutrophil degranulation;positive regulation of transcription, DNA-templated;phosphatidylinositol phosphorylation;regulation of small GTPase mediated signal transduction;positive regulation of protein kinase B signaling;cell chemotaxis;activation of GTPase activity;regulation of ruffle assembly;positive regulation of protein localization to plasma membrane
Cellular component: cytoplasm;endoplasmic reticulum membrane;cytosol;plasma membrane;focal adhesion;cell cortex;secretory granule membrane;cell projection;extracellular exosome
Molecular function: GTPase activity;protein binding;GTP binding;protein kinase binding;phosphatidylinositol-4,5-bisphosphate 3-kinase activity