TOB2

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

Basic information

Region (hg38): 22:41433492-41446801

Previous symbols: [ "TROB2" ]

Links

ENSG00000183864 ∙ NCBI:10766 ∙ OMIM:607396 ∙ HGNC:11980 ∙ Uniprot:Q14106 ∙ 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 TOB2 gene.

• not_specified (39 variants)
• not_provided (2 variants)

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. These statistics are base on transcript: NM_000016272.4. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			38	1		39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	2	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TOB2	protein_coding	protein_coding	ENST00000327492	1	13532

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.887	0.112	125684	0	1	125685	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.791	174	206	0.845	0.0000120	2246
Missense in Polyphen		41	73.285	0.55946		782
Synonymous	0.915	78	89.0	0.877	0.00000540	720
Loss of Function	2.46	0	7.08	0.00	3.00e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000993	0.0000993
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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

• 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

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

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