TAF12 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated Factor
A component of the TFIID complex essential for transcription initiation.
Gene Information Card
| Symbol | TAF12 |
|---|---|
| Full Name | TATA-box binding protein associated factor 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p35.3 |
| NCBI Gene ID | 6883 ncbi.nlm.nih.gov/gene/6883 |
| Ensembl ID | ENSG00000120656 |
| UniProt ID | Q16514 |
| OMIM ID | 600773 |
| HGNC ID | 11544 |
| Aliases | TAF2J, TAFII20, TAFII-20, TAFII20/15 |
Description
TAF12 encodes a subunit of the transcription factor IID (TFIID) complex, which is required for RNA polymerase II-mediated transcription initiation. The protein contains a histone-fold domain that mediates heterodimerization with TAF4 and contributes to promoter recognition and DNA binding. TAF12 is involved in regulating gene expression during development and cellular differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression or mutation of TAF12 may disrupt TFIID function, leading to aberrant transcription of oncogenes or tumor suppressors. | COSMIC; NCBI Gene |
| Developmental disorders | Mutations in TAF12 are associated with neurodevelopmental phenotypes, possibly due to impaired transcription of genes required for neural development. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 20.5 | High |
| Lymph node | 15.2 | Medium |
| Brain | 12.8 | Medium |
| Liver | 10.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.3 | Cervical carcinoma cell line |
| K562 | 14.7 | Leukemia cell line |
| HEK293 | 16.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Potential loss of function |
| c.100C>T | Nonsense | Rare | Premature truncation, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in TAF12 are predicted to cause loss of function, impairing TFIID complex assembly and transcription.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TAF12.
Dominant Negative (DN)
Missense mutations in the histone-fold domain may act in a dominant-negative manner by disrupting heterodimerization with TAF4.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • histone acetyltransferase activity (GO:0004402) |
| • transcription initiation from RNA polymerase II promoter (GO:0006367) | • transcription factor TFIID complex (GO:0005669) |
Pathways
• RNA polymerase II transcription initiation (Reactome: R-HSA-75953)
• TFIID complex assembly (Reactome: R-HSA-167162)
Protein Summary
TAF12 is a 20 kDa protein containing a histone-fold domain that is essential for its incorporation into the TFIID complex. It interacts with TAF4 and other TAFs to stabilize the complex and facilitate promoter recognition. The protein is ubiquitously expressed with higher levels in testis and lymphoid tissues.
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