TAF13: TATA-Box Binding Protein Associated Factor 13
A core component of the TFIID complex essential for RNA polymerase II transcription initiation
Gene Information Card
| Symbol | TAF13 |
|---|---|
| Full Name | TATA-Box Binding Protein Associated Factor 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 6884 ncbi.nlm.nih.gov/gene/6884 |
| Ensembl ID | ENSG00000197780 |
| UniProt ID | Q15542 |
| OMIM ID | 600774 |
| HGNC ID | 11546 |
| Aliases | TAFII18, TAF2K, MGC:15025 |
Description
TAF13 encodes a component of the transcription factor IID (TFIID) complex, which is required for the initiation of transcription by RNA polymerase II. TAF13 directly interacts with TATA-box binding protein (TBP) and other TAFs to form the core TFIID scaffold. The protein contains a histone-fold domain that mediates heterodimerization with TAF11. Mutations in TAF13 are associated with autosomal dominant intellectual disability type 60 (MRD60).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder, autosomal dominant 60 (MRD60) | Missense mutations in TAF13 impair TFIID complex assembly and reduce transcription of genes critical for neuronal development | OMIM #620269; ClinVar RCV001851984 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Brain (cerebral cortex) | 11.5 | Medium |
| Lymph node | 10.8 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Embryonic kidney cells |
| K562 | 9.5 | Leukemia cells |
| HeLa | 8.8 | Cervical carcinoma cells |
| HepG2 | 7.6 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.332C>T (p.Thr111Met) | Missense | Rare (gnomAD 0.0004%) | Dominant negative; reduces TAF13-TAF11 interaction |
| c.389G>A (p.Arg130Gln) | Missense | Not reported in population databases | Loss of function; impairs TFIID assembly |
Mutation functional classification
Loss of Function (LOF)
p.Arg130Gln reduces TAF13 stability and disrupts TFIID complex formation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
p.Thr111Met interferes with TAF11 binding, impairing TFIID function in a dominant manner.
View complete mutation data：
Gene Ontology (GO)
| • transcription factor TFIID complex (GO:0005669) | • DNA-templated transcription initiation (GO:0006352) |
| • DNA binding (GO:0003677) | • protein heterodimerization activity (GO:0046982) |
Pathways
• RNA polymerase II transcription initiation (Reactome R-HSA-75953)
• TFIID assembly (Reactome R-HSA-167162)
Protein Summary
TAF13 is a 18 kDa protein (140 amino acids) containing a histone-fold domain. It forms a heterodimer with TAF11, which is essential for the structural integrity of the TFIID complex. The protein localizes to the nucleus and is ubiquitously expressed. Pathogenic missense mutations cluster in the histone-fold region and disrupt protein-protein interactions critical for transcription initiation.
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