TOB2

protein-coding

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

Gene summary

TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM, Apr 2004]

Previous symbols:

TROB2

MANE transcript

NM_016272.4

Inheritance

—

ClinVar variants

U:48B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr22:41,433,492-41,446,801

External References & Databases

Ensembl (ENSG00000183864)

Transcript & Mutation Effects

hg38 • Region Span ~13.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TOB2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 47

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016272.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			46 clinvar	1 clinvar		47
nonsense						0
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	48	2	1	51

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 28 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016272.4	RefSeq	NP_057356.1	1	MANE Select
ENST00000327492.4	Ensembl	ENSP00000331305.3	1	MANE Select
ENST00000434408.1	Ensembl	ENSP00000388549.1	1	Standard
ENST00000434408.2	Ensembl	ENSP00000388549.2	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

RNA degradation - Homo sapiens (human)
Bone Morphogenic Protein (BMP) Signalling and Regulation

Biological Process

female gamete generation
negative regulation of cell population proliferation
regulation of gene expression
negative regulation of osteoclast differentiation
positive regulation of ossification

Molecular Function

transcription corepressor activity
protein binding
vitamin D receptor binding

Cellular Component

nucleus
cytoplasm
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000327492
Coding exons: 1
Length: 13532
Individuals with no LoFs: 125684
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 125685
p: 0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.791	174	206	0.845	0.0000120	2246
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Anti-proliferative protein inhibits cell cycle progression from the G0/G1 to S phases.;

Recessive Scores

pRec: 0.160

Intolerance Scores

RVIS EVS: -0.58
RVIS percentile EVS: 18.59

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.959

Gene Damage Prediction

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