RHOC

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

Basic information

Region (hg38): 1:112701127-112707434

Previous symbols: [ "ARH9", "ARHC" ]

Links

ENSG00000155366

∙ NCBI:389 ∙ OMIM:165380 ∙ HGNC:669 ∙ Uniprot:P08134 ∙ 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 RHOC gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHOC 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			9 clinvar			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in RHOC

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

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

Position	Phenotype	Significance	ClinVar
1-112701577-C-T	not specified	Uncertain significance (Dec 19, 2022)	2336435
1-112701578-G-A	not specified	Uncertain significance (Dec 28, 2023)	3154076
1-112701605-T-C	not specified	Uncertain significance (Mar 31, 2024)	3314219
1-112701653-G-A	not specified	Uncertain significance (Dec 14, 2023)	3154075
1-112701679-G-A	not specified	Uncertain significance (Aug 02, 2021)	2367773
1-112701704-G-A	not specified	Uncertain significance (Feb 28, 2024)	3154074
1-112701707-C-T	not specified	Uncertain significance (Aug 04, 2022)	2305408
1-112703731-G-C	not specified	Uncertain significance (Jan 31, 2022)	2274581
1-112703769-C-T	not specified	Uncertain significance (Oct 25, 2024)	3433159

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RHOC	protein_coding	protein_coding	ENST00000285735	4	6329

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.768	0.231	125736	0	9	125745	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.85	65	123	0.530	0.00000787	1260
Missense in Polyphen		15	33.874	0.44282		424
Synonymous	-1.13	58	48.0	1.21	0.00000300	378
Loss of Function	2.50	1	9.17	0.109	5.38e-7	96

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	0.00	0.00
European (Non-Finnish)	0.0000361	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.000101	0.0000980
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Regulates apical junction formation in bronchial epithelial cells. {ECO:0000269|PubMed:16236794, ECO:0000269|PubMed:20974804}.;
Pathway: Spinal Cord Injury;VEGFA-VEGFR2 Signaling Pathway;Ebola Virus Pathway on Host;Ebola Virus Pathway on Host;Developmental Biology;Signaling by GPCR;Signal Transduction;RHO GTPases Activate Rhotekin and Rhophilins;RHO GTPases Activate Formins;Rho GTPase cycle;RHO GTPases Activate ROCKs;RHO GTPases activate PKNs;RHO GTPases activate CIT;RHO GTPase Effectors;Signaling by Rho GTPases;Sema4D induced cell migration and growth-cone collapse;Sema4D in semaphorin signaling;CXCR4-mediated signaling events;Semaphorin interactions;Axon guidance;G alpha (12/13) signalling events;GPCR downstream signalling;p75(NTR)-mediated signaling;Signaling events mediated by PRL (Consensus)

Recessive Scores

pRec: 0.188

Intolerance Scores

loftool: 0.309
rvis_EVS: -0.25
rvis_percentile_EVS: 35.42

Haploinsufficiency Scores

pHI: 0.395
hipred: Y
hipred_score: 0.503
ghis: 0.548

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.831

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rhoc
Phenotype: cellular phenotype; neoplasm;

Gene ontology

Biological process: mitotic cytokinesis;actin filament organization;G protein-coupled receptor signaling pathway;Rho protein signal transduction;regulation of cell shape;cell migration;regulation of cell migration;positive regulation of cell migration;establishment or maintenance of actin cytoskeleton polarity;positive regulation of protein homooligomerization;regulation of actin cytoskeleton organization;positive regulation of I-kappaB kinase/NF-kappaB signaling;apical junction assembly;wound healing, spreading of cells;actin filament bundle assembly;regulation of small GTPase mediated signal transduction;positive regulation of stress fiber assembly;positive regulation of lipase activity;skeletal muscle satellite cell migration
Cellular component: nucleus;cytoplasm;cytosol;plasma membrane;cell cortex;cell division site;cleavage furrow;stereocilium;intracellular membrane-bounded organelle;extracellular exosome
Molecular function: GTPase activity;protein binding;GTP binding;protein kinase binding