GTF2F2 Gene - General Transcription Factor IIF Subunit 2
Essential component of the RNA polymerase II transcription initiation complex
Gene Information Card
| Symbol | GTF2F2 |
|---|---|
| Full Name | General Transcription Factor IIF Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.12 |
| NCBI Gene ID | 2961 ncbi.nlm.nih.gov/gene/2961 |
| Ensembl ID | ENSG00000100142 |
| UniProt ID | P13984 |
| OMIM ID | 189969 |
| HGNC ID | 4653 |
| Aliases | RAP30, TFIIF-beta, TFIIF2 |
Description
GTF2F2 encodes the beta subunit of general transcription factor IIF (TFIIF), a heterodimeric complex essential for RNA polymerase II transcription initiation. TFIIF stabilizes the RNA polymerase II pre-initiation complex, promotes promoter clearance, and modulates elongation. The beta subunit (RAP30) interacts with RNA polymerase II and other transcription factors to facilitate accurate transcription initiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leukemia, acute myeloid | Altered expression of GTF2F2 may disrupt transcriptional regulation of genes involved in hematopoiesis | PMID: 23555300; COSMIC |
| Colorectal cancer | Somatic mutations in GTF2F2 reported in tumor samples, potential impact on transcription fidelity | COSMIC; PMID: 26619011 |
| Lung cancer | Overexpression or mutation of GTF2F2 observed, possibly affecting cell proliferation pathways | COSMIC; PMID: 21798893 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 18.2 | Medium |
| Lymph node | 15.7 | Medium |
| Brain | 12.1 | Medium |
| Liver | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 22.3 | High expression |
| HeLa (cervical) | 19.1 | Medium expression |
| A549 (lung) | 16.4 | Medium expression |
| HepG2 (liver) | 11.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Thr166Met) | Missense | <0.01% | Unknown; reported in COSMIC |
| c.632A>G (p.Asn211Ser) | Missense | <0.01% | Unknown; reported in COSMIC |
| c.784G>A (p.Glu262Lys) | Missense | <0.01% | Unknown; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in GTF2F2; complete loss likely lethal due to essential role in transcription.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RNA polymerase II transcription initiation (Reactome: R-HSA-75955)
• Formation of RNA polymerase II elongation complex (Reactome: R-HSA-112382)
• Transcription (KEGG: hsa03022)
Protein Summary
GTF2F2 encodes the 249-amino acid beta subunit (RAP30) of transcription factor IIF (TFIIF). This protein contains a winged helix domain that mediates interaction with RNA polymerase II and the alpha subunit (GTF2F1). TFIIF is required for stable recruitment of RNA polymerase II to the promoter and facilitates promoter melting and clearance. The beta subunit also plays a role in coupling transcription initiation to elongation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GTF2F2 Knockout HEK293 Cell Line | EDJ-KQ50321 | Human | 2963 | Details Get a Quote |
| GTF2F2 Knockout HeLa Cell Line | EDJ-KQ53454 | Human | 2963 | Details Get a Quote |
| GTF2F2 Knockout A-549 Cell Line | EDJ-KQ61927 | Human | 2963 | Details Get a Quote |
| GTF2F2 Knockout HCT 116 Cell Line | EDJ-KQ70408 | Human | 2963 | Details Get a Quote |
