TAF11 Gene (TATA-Box Binding Protein Associated Factor 11)
A core component of the TFIID complex involved in RNA polymerase II transcription initiation
Gene Information Card
| Symbol | TAF11 |
|---|---|
| Full Name | TATA-box binding protein associated factor 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 6882 ncbi.nlm.nih.gov/gene/6882 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q15544 |
| OMIM ID | 600772 |
| HGNC ID | 11544 |
| Aliases | TAF2I, TAFII28, PRO2134 |
Description
TAF11 encodes a subunit of the transcription factor IID (TFIID) complex, which is essential for RNA polymerase II-mediated transcription initiation. TAF11 directly interacts with TATA-box binding protein (TBP) and other TAFs to form the core TFIID complex, facilitating promoter recognition and transcription pre-initiation complex assembly. The gene is located on chromosome 6p21.31 and is ubiquitously expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and intellectual disability | Biallelic loss-of-function mutations in TAF11 impair TFIID assembly, leading to global transcriptional dysregulation | ClinVar, OMIM |
| Colorectal cancer | Somatic missense mutations in TAF11 may alter TFIID function, contributing to tumorigenesis | COSMIC |
| Lung adenocarcinoma | Recurrent mutations in TAF11 observed in cancer genome screens | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Brain (cortex) | 9.2 | Medium |
| Liver | 7.1 | Low |
| Heart | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| K562 | 11.0 | Leukemia cell line |
| A549 | 9.8 | Lung cancer cell line |
| HEK293 | 8.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.287G>A (p.Arg96Gln) | Missense | 0.02% | Alters TBP interaction domain |
| c.412C>T (p.Arg138Trp) | Missense | 0.01% | Reported in neurodevelopmental disorder |
| c.523_524del (p.Glu175fs) | Frameshift | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in TAF11 cause neurodevelopmental disorder with hypotonia and intellectual disability (OMIM #600772).
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TAF11.
Dominant Negative (DN)
No dominant-negative mutations currently described for TAF11.
View complete mutation data：
Gene Ontology (GO)
| • TFIID complex (GO:0005669) | • transcription initiation from RNA polymerase II promoter (GO:0006367) |
| • zinc ion binding (GO:0008270) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) |
Pathways
• RNA polymerase II transcription initiation (Reactome R-HSA-75953)
• TFIID assembly (Reactome R-HSA-167162)
Protein Summary
TAF11 (TATA-box binding protein associated factor 11) is a 28 kDa protein containing a histone-fold domain that mediates heterodimerization with TAF13. It is an integral component of the TFIID complex, bridging TBP and other TAFs to stabilize the pre-initiation complex. The protein is localized to the nucleus and is essential for accurate transcription initiation of RNA polymerase II genes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAF11 Knockout HEK293 Cell Line | EDJ-KQ2989 | Human | 6882 | Details Get a Quote |
| TAF11L4 Knockout HEK293 Cell Line | EDJ-KQ14811 | Human | 391746 | Details Get a Quote |
| TAF11L9 Knockout HEK293 Cell Line | EDJ-KQ14821 | Human | 112488745 | Details Get a Quote |
| TAF11L14 Knockout HEK293 Cell Line | EDJ-KQ14827 | Human | 112488740 | Details Get a Quote |
| TAF11L2 Knockout HEK293 Cell Line | EDJ-KQ15592 | Human | 391742 | Details Get a Quote |
| TAF11L3 Knockout HEK293 Cell Line | EDJ-KQ15593 | Human | 646103 | Details Get a Quote |
| TAF11L5 Knockout HEK293 Cell Line | EDJ-KQ15595 | Human | 646066 | Details Get a Quote |
| TAF11L6 Knockout HEK293 Cell Line | EDJ-KQ15596 | Human | 391747 | Details Get a Quote |
| TAF11L7 Knockout HEK293 Cell Line | EDJ-KQ15598 | Human | 112488736 | Details Get a Quote |
| TAF11L8 Knockout HEK293 Cell Line | EDJ-KQ15599 | Human | 112488737 | Details Get a Quote |
| TAF11L10 Knockout HEK293 Cell Line | EDJ-KQ15601 | Human | 112488738 | Details Get a Quote |
| TAF11L11 Knockout HEK293 Cell Line | EDJ-KQ15602 | Human | 112488746 | Details Get a Quote |
| TAF11L12 Knockout HEK293 Cell Line | EDJ-KQ15604 | Human | 112488739 | Details Get a Quote |
| TAF11L13 Knockout HEK293 Cell Line | EDJ-KQ15605 | Human | 112488747 | Details Get a Quote |
| TAF11 Knockout A-549 Cell Line | EDJ-KQ24167 | Human | 6882 | Details Get a Quote |
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