TAF4B
TATA-Box Binding Protein Associated Factor 4b
Gene Information Card
| Symbol | TAF4B |
|---|---|
| Full Name | TATA-Box Binding Protein Associated Factor 4b |
| Gene Type | protein-coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 6875 ncbi.nlm.nih.gov/gene/6875 |
| Ensembl ID | ENSG00000141384 |
| UniProt ID | Q92750 |
| OMIM ID | 601689 |
| HGNC ID | 11540 |
| Aliases | TAF4B, TAF2C2, TAFII105 |
Description
TAF4B encodes a subunit of the transcription factor IID (TFIID) complex, which is essential for RNA polymerase II-mediated transcription. This protein is a cell-type-specific component that plays a critical role in transcriptional regulation during development, particularly in ovarian follicle development and spermatogenesis. TAF4B is also involved in chromatin remodeling and cell cycle control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian dysgenesis | Loss-of-function mutations in TAF4B impair TFIID complex assembly, disrupting folliculogenesis and leading to primary ovarian insufficiency. | ClinVar, OMIM |
| Spermatogenic failure | TAF4B deficiency causes defective spermatogenesis due to altered transcription of germ cell-specific genes. | NCBI Gene, OMIM |
| Non-small cell lung cancer | TAF4B overexpression may promote tumor growth by enhancing transcription of proliferation-associated genes. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Ovary | 8.7 | Medium |
| Lung | 3.1 | Low |
| Brain | 1.8 | Low |
| Liver | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 4.5 | Moderate expression |
| A549 | 6.2 | Elevated expression |
| K562 | 2.1 | Low expression |
| HepG2 | 1.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109C>T (p.Arg37Ter) | Nonsense | <0.1% | Loss of function; associated with ovarian dysgenesis |
| c.487G>A (p.Gly163Arg) | Missense | <0.1% | Impaired TFIID binding; linked to spermatogenic failure |
| c.1022_1023insA | Frameshift | <0.1% | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, disrupting TFIID complex formation and transcriptional activation.
Gain of Function (GOF)
Not reported in TAF4B.
Dominant Negative (DN)
Missense mutations that impair protein-protein interactions without complete loss of protein, potentially interfering with wild-type TAF4B function.
View complete mutation data：
Gene Ontology (GO)
| • transcription initiation from RNA polymerase II promoter | • DNA-binding transcription factor activity |
| • TFIID-class transcription factor complex | • protein heterodimerization activity |
| • chromatin binding |
Pathways
• RNA polymerase II transcription initiation
• TFIID complex assembly
• Gene expression (Transcription)
Protein Summary
TAF4B is a 105 kDa protein that functions as a cell-type-specific subunit of the TFIID complex. It contains a conserved TAF4 homology domain and interacts with TBP and other TAFs to facilitate promoter recognition and transcription initiation. TAF4B is essential for germ cell development and is implicated in reproductive disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAF4B Knockout HEK293 Cell Line | EDJ-KQ5139 | Human | 6875 | Details Get a Quote |
| TAF4B Knockout A-549 Cell Line | EDJ-KQ29371 | Human | 6875 | Details Get a Quote |
| TAF4B Knockout HCT 116 Cell Line | EDJ-KQ29372 | Human | 6875 | Details Get a Quote |
| TAF4B Knockout HeLa Cell Line | EDJ-KQ29373 | Human | 6875 | Details Get a Quote |
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