GeneBe

RHOT2

ras homolog family member T2, the group of Miro like atypical Rho GTPases|EF-hand domain containing

Basic information

Region (hg38): 16:668100-674174

Previous symbols: [ "C16orf39", "ARHT2" ]

Links

ENSG00000140983 ∙ NCBI:89941 ∙ OMIM:613889 ∙ HGNC:21169 ∙ Uniprot:Q8IXI1 ∙ 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 RHOT2 gene.

  • not_specified (128 variants)
  • not_provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHOT2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138769.3. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
5
clinvar
 6
missense
114
clinvar
15
clinvar
1
clinvar
 130
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 114 16 6
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RHOT2protein_codingprotein_codingENST00000315082 196089
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
8.90e-270.000058212536301311254940.000522
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.404794001.200.00002733940
Missense in Polyphen126109.631.14931147
Synonymous-4.662671861.430.00001431272
Loss of Function-0.5033834.81.090.00000175388

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007920.000780
Ashkenazi Jewish0.0003070.000298
East Asian0.0005550.000544
Finnish0.0002900.000277
European (Non-Finnish)0.0006630.000644
Middle Eastern0.0005550.000544
South Asian0.0007170.000654
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution (By similarity). {ECO:0000250, ECO:0000269|PubMed:16630562}.;
Pathway
Mitophagy - animal - Homo sapiens (human);Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Recessive Scores

pRec
0.114

Intolerance Scores

loftool
0.803
rvis_EVS
-1.12
rvis_percentile_EVS
6.61

Haploinsufficiency Scores

pHI
0.124
hipred
N
hipred_score
0.170
ghis
0.568

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.943

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyHighMediumHigh
CancerHighMediumHigh

Mouse Genome Informatics

Gene name
Rhot2
Phenotype
skeleton phenotype; normal phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype;

Gene ontology

Biological process
mitochondrion organization;Rho protein signal transduction;regulation of mitochondrion organization;cellular homeostasis;mitochondrion transport along microtubule;regulation of small GTPase mediated signal transduction;mitochondrial outer membrane permeabilization
Cellular component
mitochondrion;cytosol;plasma membrane;membrane;integral component of mitochondrial outer membrane
Molecular function
GTPase activity;calcium ion binding;protein binding;GTP binding