TAF2 Gene
TATA-Box Binding Protein Associated Factor 2
Gene Information Card
| Symbol | TAF2 |
|---|---|
| Full Name | TATA-box binding protein associated factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.12 |
| NCBI Gene ID | 6873 ncbi.nlm.nih.gov/gene/6873 |
| Ensembl ID | ENSG00000104447 |
| UniProt ID | Q6P1X5 |
| OMIM ID | 604912 |
| HGNC ID | 11536 |
| Aliases | TAFII150, CIF150, MGC:150194 |
Description
TAF2 encodes a subunit of the transcription factor IID (TFIID) complex, which is essential for RNA polymerase II-mediated transcription initiation. The protein directly interacts with the TATA-box binding protein (TBP) and contributes to promoter recognition and transcriptional activation. Mutations in TAF2 are associated with autosomal recessive neurodevelopmental disorder with microcephaly and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly | Loss-of-function mutations impair TFIID assembly, reducing transcription of genes critical for brain development | OMIM #615967 |
| Autosomal recessive intellectual disability | Disruption of TAF2 function leads to global transcriptional dysregulation in neurons | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Brain | 20.5 | Medium |
| Lymph node | 15.3 | Medium |
| Liver | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 25.4 | Embryonic kidney cells |
| HeLa | 18.7 | Cervical carcinoma cells |
| SH-SY5Y | 22.1 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378*) | Nonsense | Rare | Loss of function; premature termination |
| c.1567G>A (p.Gly523Arg) | Missense | Rare | Impaired protein stability and TFIID complex formation |
| c.2140_2141del (p.Leu714fs) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated, non-functional TAF2 protein, reducing TFIID activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • transcription factor TFIID complex (GO:0005669) | • DNA-templated transcription initiation (GO:0006352) |
| • zinc ion binding (GO:0008270) | • protein heterodimerization activity (GO:0046982) |
Pathways
• RNA polymerase II transcription initiation (Reactome R-HSA-75953)
• TFIID assembly (Reactome R-HSA-167162)
Protein Summary
TAF2 is a 150 kDa subunit of the TFIID complex, containing a histone-fold domain and a zinc-binding region. It stabilizes the interaction between TBP and promoter DNA, facilitating transcription initiation. The protein is ubiquitously expressed with highest levels in testis and brain.
Related Services
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|---|---|---|---|---|
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