TADA2B
protein-codingtranscriptional adaptor 2B, the group of Zinc fingers ZZ-type|SAGA complex|Myb/SANT domain containing
Gene summary
TADA2B functions as a transcriptional adaptor protein that potentiates transcription through coordination of histone acetyltransferase (HAT) activity and by linking activation factors to basal transcriptional machinery (Barlev et al., 2003 [PubMed 12972612]).[supplied by OMIM, Apr 2010]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~16.1 kbGenCC 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 TADA2B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_152293.3. 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 | 0 | |||||
| missense | 32 | 1 | 33 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 33 | 1 | 0 | 34 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_689506.2 | 2 | MANE Select | |
| Ensembl | ENSP00000308022.6 | 2 | MANE Select | |
| Ensembl | ENSP00000422398.1 | 1 | Standard | |
| Ensembl | ENSP00000425731.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Post-translational protein modification
- Metabolism of proteins
- Chromatin modifying enzymes
- HATs acetylate histones
- Ub-specific processing proteases
Biological Process
- chromatin remodeling
- regulation of transcription by RNA polymerase II
- histone acetylation
- protein deubiquitination
- positive regulation of histone acetylation
Molecular Function
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA binding
- chromatin binding
- transcription coactivator activity
- histone acetyltransferase activity
Cellular Component
- nucleus
- nucleoplasm
- STAGA complex
- SAGA-type complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000310074
- Coding exons
- 2
- Length
- 16054
- Individuals with no LoFs
- 124614
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 3
- Defined
- 124617
- p
- 0.0000120
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.80 | 136 | 264 | 0.515 | 0.0000178 | 2733 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000018 | 0.000018 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Coactivates PAX5-dependent transcription together with either SMARCA4 or GCN5L2. {ECO:0000269|PubMed:12972612}.;
Intolerance Scores
- LoFtool
- 0.181
- RVIS EVS
- -0.3
- RVIS percentile EVS
- 32.62
Essentials
- Essential (CRISPR)
- E
- Essential (CRISPR2)
- N
- Essential (gene trap)
- K
- Indispensability pred.
- E
- Indispensability score
- 0.539
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |