TADA2B

transcriptional adaptor 2B, the group of Zinc fingers ZZ-type|SAGA complex|Myb/SANT domain containing

Basic information

Region (hg38): 4:7041899-7057952

Links

ENSG00000173011 ∙ NCBI:93624 ∙ OMIM:608790 ∙ HGNC:30781 ∙ Uniprot:Q86TJ2 ∙ 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 TADA2B gene.

• not_specified (27 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TADA2B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152293.3. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			26	1		27
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	26	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TADA2B	protein_coding	protein_coding	ENST00000310074	2	16054

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.724	0.276	124614	0	3	124617	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.80	136	264	0.515	0.0000178	2733
Missense in Polyphen		10	52.744	0.18959		527
Synonymous	-0.387	124	119	1.05	0.00000871	829
Loss of Function	2.82	2	12.9	0.154	6.36e-7	164

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000178	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Coactivates PAX5-dependent transcription together with either SMARCA4 or GCN5L2. {ECO:0000269|PubMed:12972612}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Chromatin modifying enzymes;HATs acetylate histones;Ub-specific processing proteases;Deubiquitination;Chromatin organization;Direct p53 effectors (Consensus)

Intolerance Scores

• loftool: 0.181
• rvis_EVS: -0.3
• rvis_percentile_EVS: 32.62

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.713
• ghis: 0.581

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tada2b

Gene ontology

• Biological process: chromatin remodeling;regulation of transcription by RNA polymerase II;histone acetylation;protein deubiquitination;positive regulation of histone acetylation;positive regulation of nucleic acid-templated transcription
• Cellular component: nucleus;nucleoplasm;STAGA complex;SAGA-type complex
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;chromatin binding;transcription coactivator activity;histone acetyltransferase activity;protein binding;zinc ion binding;thiol-dependent ubiquitinyl hydrolase activity