TOB2

transducer of ERBB2, 2, the group of BTG/Tob family

Basic information

Region (hg38): 22:41433492-41446801

Previous symbols: [ "TROB2" ]

Links

ENSG00000183864NCBI:10766OMIM:607396HGNC:11980Uniprot:Q14106AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TOB2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TOB2 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
clinvar
1
clinvar
2
missense
13
clinvar
1
clinvar
14
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 13 2 1

Variants in TOB2

This is a list of pathogenic ClinVar variants found in the TOB2 region.

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

Position Type Phenotype Significance ClinVar
22-41436315-T-C not specified Uncertain significance (Aug 23, 2021)2350334
22-41436421-C-T not specified Likely benign (Jan 26, 2022)3180947
22-41436465-C-G not specified Uncertain significance (Apr 08, 2024)3327968
22-41436501-G-A not specified Uncertain significance (Nov 10, 2022)2325817
22-41436506-G-A Likely benign (Feb 01, 2023)2653228
22-41436549-C-T not specified Uncertain significance (Jan 30, 2024)3180946
22-41436557-G-A Benign (Jan 19, 2018)784421
22-41436684-C-T not specified Uncertain significance (Sep 27, 2021)2249098
22-41436685-G-A not specified Uncertain significance (Jul 20, 2021)2238630
22-41436694-G-A not specified Uncertain significance (Jun 02, 2023)2563221
22-41436696-G-A not specified Uncertain significance (Jan 23, 2023)2478006
22-41436697-G-T not specified Uncertain significance (Aug 12, 2021)2243234
22-41436925-C-G not specified Uncertain significance (Oct 02, 2023)3180945
22-41436985-C-T not specified Uncertain significance (Nov 21, 2022)2319664
22-41437005-A-C not specified Uncertain significance (Apr 15, 2024)3327967
22-41437098-C-T not specified Uncertain significance (Jun 12, 2023)2559526
22-41437125-C-T not specified Uncertain significance (Jan 19, 2024)3180944
22-41437147-C-G not specified Uncertain significance (Aug 15, 2023)2591854

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TOB2protein_codingprotein_codingENST00000327492 113532
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8870.112125684011256850.00000398
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7911742060.8450.00001202246
Missense in Polyphen4173.2850.55946782
Synonymous0.9157889.00.8770.00000540720
Loss of Function2.4607.080.003.00e-793

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.00009930.0000993
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Anti-proliferative protein inhibits cell cycle progression from the G0/G1 to S phases.;
Pathway
RNA degradation - Homo sapiens (human);Bone Morphogenic Protein (BMP) Signalling and Regulation (Consensus)

Recessive Scores

pRec
0.160

Intolerance Scores

loftool
rvis_EVS
-0.58
rvis_percentile_EVS
18.59

Haploinsufficiency Scores

pHI
0.382
hipred
N
hipred_score
0.437
ghis
0.569

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.959

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tob2
Phenotype
skeleton phenotype; immune system phenotype; hematopoietic system phenotype; cellular phenotype;

Gene ontology

Biological process
female gamete generation;negative regulation of cell population proliferation;regulation of gene expression;negative regulation of osteoclast differentiation;positive regulation of ossification;negative regulation of nucleic acid-templated transcription
Cellular component
nucleus;cytoplasm;cytosol
Molecular function
transcription corepressor activity;protein binding;vitamin D receptor binding