RHOC

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

Basic information

Region (hg38): 1:112701127-112707434

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

Links

ENSG00000155366NCBI:389OMIM:165380HGNC:669Uniprot:P08134AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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 Type 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

GeneTypeBio TypeTranscript Coding Exons Length
RHOCprotein_codingprotein_codingENST00000285735 46329
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.7680.231125736091257450.0000358
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.85651230.5300.000007871260
Missense in Polyphen1533.8740.44282424
Synonymous-1.135848.01.210.00000300378
Loss of Function2.5019.170.1095.38e-796

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00003610.0000352
Middle Eastern0.000.00
South Asian0.0001010.0000980
Other0.0003280.000326

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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