RND2

Rho family GTPase 2, the group of Rho family GTPases

Basic information

Region (hg38): 17:43025230-43032041

Previous symbols: [ "ARHN" ]

Links

ENSG00000108830 ∙ NCBI:8153 ∙ OMIM:601555 ∙ HGNC:18315 ∙ Uniprot:P52198 ∙ 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 RND2 gene.

• Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RND2 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in RND2

This is a list of pathogenic ClinVar variants found in the RND2 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-43027183-G-T		not specified	Uncertain significance (Oct 10, 2023)
17-43027261-G-A		not specified	Uncertain significance (Jul 05, 2023)
17-43028130-C-T		not specified	Uncertain significance (Sep 29, 2023)
17-43028149-T-C		not specified	Uncertain significance (Jan 04, 2022)
17-43028179-C-T		not specified	Uncertain significance (Apr 18, 2023)
17-43028486-C-T		not specified	Uncertain significance (Feb 28, 2023)
17-43028510-G-A		not specified	Uncertain significance (Feb 28, 2023)
17-43028513-G-A		not specified	Uncertain significance (Apr 07, 2023)
17-43028517-T-A		not specified	Uncertain significance (Sep 01, 2021)
17-43028559-A-G		not specified	Uncertain significance (Jan 04, 2022)
17-43028583-G-A		not specified	Uncertain significance (May 23, 2023)
17-43028588-A-G		not specified	Uncertain significance (Jul 08, 2022)
17-43028595-G-A		not specified	Uncertain significance (May 18, 2023)
17-43028615-C-T		not specified	Uncertain significance (Dec 20, 2021)
17-43028616-G-A		not specified	Uncertain significance (Dec 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RND2	protein_coding	protein_coding	ENST00000587250	5	6800

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000386	0.855	125711	0	37	125748	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.725	118	142	0.829	0.00000894	1444
Missense in Polyphen		44	50.075	0.87868		567
Synonymous	2.84	27	53.4	0.506	0.00000285	470
Loss of Function	1.30	7	11.8	0.592	7.55e-7	118

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000415	0.000414
Ashkenazi Jewish	0.00	0.00
East Asian	0.000165	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.000165	0.000163
South Asian	0.0000983	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be specifically involved in neuronal and hepatic functions. Is a C3 toxin-insensitive member of the Rho subfamily (By similarity). {ECO:0000250}.
• Pathway: Plexin-D1 Signaling (Consensus)

Recessive Scores

• pRec: 0.145

Intolerance Scores

• loftool: 0.706
• rvis_EVS: -0.3
• rvis_percentile_EVS: 32.62

Haploinsufficiency Scores

• pHI: 0.260
• hipred: N
• hipred_score: 0.466
• ghis: 0.604

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.903

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnd2

Gene ontology

• Biological process: actin filament organization;signal transduction;Rho protein signal transduction;regulation of cell shape;regulation of cell migration;establishment or maintenance of actin cytoskeleton polarity;regulation of actin cytoskeleton organization;positive regulation of collateral sprouting;actin filament bundle assembly
• Cellular component: acrosomal membrane;cytoplasm;early endosome;plasma membrane;cell cortex;cell division site;intracellular membrane-bounded organelle
• Molecular function: GTPase activity;protein binding;GTP binding;protein kinase binding;protein N-terminus binding