RHOQ

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

Basic information

Region (hg38): 2:46541806-46584688

Previous symbols: [ "RASL7A", "ARHQ" ]

Links

ENSG00000119729

∙ NCBI:23433 ∙ OMIM:605857 ∙ HGNC:17736 ∙ Uniprot:P17081 ∙ 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 RHOQ gene.

not_specified (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHOQ gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012249.4. 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			1 clinvar			1
missense			15 clinvar			15
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	16	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RHOQ	protein_coding	protein_coding	ENST00000238738	5	41316

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.857	0.143	125740	0	7	125747	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.31	74	113	0.653	0.00000553	1315
Missense in Polyphen		21	45.545	0.46109		546
Synonymous	-1.95	61	44.5	1.37	0.00000236	391
Loss of Function	2.76	1	10.8	0.0930	5.37e-7	135

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000630	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000554	0.0000544
Finnish	0.0000933	0.0000924
European (Non-Finnish)	0.0000274	0.0000264
Middle Eastern	0.0000554	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the formation of thin, actin-rich surface projections called filopodia. {ECO:0000269|PubMed:15546864}.;
Pathway: Insulin signaling pathway - Homo sapiens (human);Angiopoietin Like Protein 8 Regulatory Pathway;Insulin Signaling;Signal Transduction;Rho GTPase cycle;RHO GTPases regulate CFTR trafficking;RHO GTPase Effectors;Signaling by Rho GTPases;Insulin Pathway;Insulin-mediated glucose transport (Consensus)

Recessive Scores

pRec: 0.194

Intolerance Scores

loftool: 0.290
rvis_EVS: -0.16
rvis_percentile_EVS: 41.25

Haploinsufficiency Scores

pHI: 0.110
hipred: Y
hipred_score: 0.599
ghis: 0.602

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.591

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rhoq
Phenotype

Gene ontology

Biological process: endocytosis;actin filament organization;establishment or maintenance of cell polarity;Rho protein signal transduction;insulin receptor signaling pathway;regulation of cell shape;cell projection assembly;actin cytoskeleton organization;cortical actin cytoskeleton organization;cellular response to insulin stimulus;regulation of actin cytoskeleton organization;positive regulation of transcription by RNA polymerase II;GTP metabolic process;positive regulation of glucose import;regulation of small GTPase mediated signal transduction;positive regulation of filopodium assembly;negative regulation of protein localization to plasma membrane
Cellular component: cytoplasm;cytosol;actin filament;plasma membrane;cell cortex;Golgi-associated vesicle membrane;cell projection;membrane raft;extracellular exosome
Molecular function: GTPase activity;profilin binding;GTP binding;protein kinase binding;GBD domain binding