TAF3
protein-codingTATA-box binding protein associated factor 3, the group of General transcription factor IID complex subunits |Armadillo like helical domain containing|PHD finger proteins
Gene summary
The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~198.1 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 TAF3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_031923.4. 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 | 3 | 2 | 5 | |||
| missense | 90 | 4 | 1 | 95 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 93 | 4 | 3 | 100 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_114129.1 | 7 | MANE Select | |
| Ensembl | ENSP00000340271.5 | 7 | MANE Select | |
| Ensembl | ENSP00000509355.1 | 3 | Standard | |
| Ensembl | ENSP00000508875.1 | 7 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| taf3 | Danio rerio | Structure: nucleate erythrocyte Quality: absent abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Basal transcription factors - Homo sapiens (human)
- Herpes simplex infection - Homo sapiens (human)
- Disease
- Gene expression (Transcription)
- Generic Transcription Pathway
Biological Process
- negative regulation of transcription by RNA polymerase II
- transcription by RNA polymerase II
- transcription initiation from RNA polymerase II promoter
- negative regulation of DNA-binding transcription factor activity
- maintenance of protein location in nucleus
Molecular Function
- p53 binding
- protein binding
- metal ion binding
- protein heterodimerization activity
Cellular Component
- nucleus
- nucleoplasm
- transcription factor TFIID complex
- nuclear membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000344293
- Coding exons
- 7
- Length
- 198124
- Individuals with no LoFs
- 120057
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 1
- Defined
- 120058
- p
- 0.00000416
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.21 | 360 | 499 | 0.722 | 0.0000269 | 6042 |
| Missense (PolyPhen) | 63 | 115.82 | 0.54395 | 1511 | ||
| Synonymous | -0.153 | 207 | 204 | 1.01 | 0.0000126 | 1803 |
| Loss of Function | 5.27 | 1 | 34.3 | 0.0292 | 0.00000200 | 462 |
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 | 0.00012 | 0.000059 | rare |
| 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:
- Function
- FUNCTION: Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Required in complex with TBPL2 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process.;
Recessive Scores
- pRec
- 0.111
Intolerance Scores
- LoFtool
- 0.0169
- RVIS EVS
- 0.55
- RVIS percentile EVS
- 81.6
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- K
- Indispensability pred.
- E
- Indispensability score
- 0.913
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |