RHOD

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

Basic information

Region (hg38): 11:67056846-67072017

Previous symbols: [ "ARHD" ]

Links

ENSG00000173156 ∙ NCBI:29984 ∙ OMIM:605781 ∙ HGNC:670 ∙ Uniprot:O00212 ∙ 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 RHOD gene.

• Inborn genetic diseases (7 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHOD 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					1	1
missense			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	1

Variants in RHOD

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

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

Position	Type	Phenotype	Significance	ClinVar
11-67057030-C-G		not specified	Uncertain significance (Dec 02, 2022)
11-67065909-C-T		not specified	Uncertain significance (Oct 29, 2021)
11-67066788-G-A		not specified	Uncertain significance (Aug 08, 2022)
11-67066806-G-A		not specified	Uncertain significance (Dec 13, 2021)
11-67066828-T-G		not specified	Uncertain significance (Jun 27, 2022)
11-67070447-T-C		not specified	Uncertain significance (Jul 27, 2022)
11-67071472-A-G		not specified	Uncertain significance (May 31, 2023)
11-67071530-C-T			Benign (Dec 31, 2019)
11-67071591-G-A		not specified	Uncertain significance (Jan 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RHOD	protein_coding	protein_coding	ENST00000308831	5	15196

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0159	0.892	125722	1	25	125748	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.939	95	124	0.763	0.00000778	1337
Missense in Polyphen		41	56.249	0.72891		579
Synonymous	1.33	43	55.6	0.773	0.00000372	421
Loss of Function	1.41	4	8.42	0.475	4.43e-7	94

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000218	0.000193
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in endosome dynamics. May coordinate membrane transport with the function of the cytoskeleton. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Participates in the reorganization of actin cytoskeleton; the function seems to involve WHAMM and includes regulation of filopodia formation and actin filament bundling. Can modulate the effect of DAPK3 in reorganization of actin cytoskeleton and focal adhesion dissolution. {ECO:0000269|PubMed:23087206, ECO:0000269|PubMed:23454120, ECO:0000269|PubMed:24102721}.
• Pathway: Axon guidance - Homo sapiens (human);Signal Transduction;RHO GTPases Activate Formins;Rho GTPase cycle;RHO GTPase Effectors;Signaling by Rho GTPases (Consensus)

Recessive Scores

• pRec: 0.207

Intolerance Scores

• loftool: 0.592
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.32

Haploinsufficiency Scores

• pHI: 0.0553
• hipred: Y
• hipred_score: 0.676
• ghis: 0.438

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.487

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rhod

Gene ontology

• Biological process: protein targeting;actin filament organization;Rho protein signal transduction;regulation of cell shape;cell migration;lamellipodium assembly;regulation of cell migration;positive regulation of cell migration;establishment or maintenance of actin cytoskeleton polarity;regulation of actin cytoskeleton organization;positive regulation of cell adhesion;focal adhesion assembly;actin filament bundle assembly;regulation of small GTPase mediated signal transduction;regulation of focal adhesion assembly;regulation of actin cytoskeleton reorganization
• Cellular component: cytoplasm;early endosome;cytosol;plasma membrane;cell cortex;endosome membrane;cell division site;intracellular membrane-bounded organelle
• Molecular function: GTPase activity;GTP binding;protein kinase binding