TTF2 Gene: Transcription Termination Factor 2
Essential regulator of RNA polymerase II transcription termination and genome stability
Gene Information Card
| Symbol | TTF2 |
|---|---|
| Full Name | Transcription Termination Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.1 |
| NCBI Gene ID | 8458 ncbi.nlm.nih.gov/gene/8458 |
| Ensembl ID | ENSG00000116830 |
| UniProt ID | Q9UNY4 |
| OMIM ID | 604718 |
| HGNC ID | 12398 |
| Aliases | F2, HuF2, TTF2, transcription termination factor 2 |
Description
TTF2 (Transcription Termination Factor 2) encodes a protein that functions as a helicase and transcription termination factor for RNA polymerase II. It is involved in the release of paused RNA polymerase II at the end of genes, facilitating transcription termination and recycling of polymerase. TTF2 also plays roles in DNA repair, chromatin remodeling, and maintenance of genome stability. The protein contains a DEAD/DEAH box helicase domain and is localized to the nucleus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered TTF2 expression and mutations may disrupt transcription termination, leading to read-through transcripts and genomic instability | COSMIC database reports somatic mutations in multiple cancer types including lung, breast, and colorectal cancers |
| Neurodevelopmental disorders | Potential role in neuronal gene expression regulation; variants may affect neurodevelopment | ClinVar lists TTF2 variants associated with intellectual disability and developmental delay |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Brain | 8.2 | Medium |
| Lung | 6.7 | Medium |
| Liver | 4.1 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney cells |
| HeLa | 9.1 | Cervical cancer cells |
| A549 | 7.8 | Lung carcinoma cells |
| MCF7 | 6.5 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% | Potential loss of helicase activity |
| c.567_568del (p.Glu190fs) | Frameshift | 0.01% | Loss of function |
| c.2345A>G (p.Asn782Ser) | Missense | 0.03% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the helicase domain are predicted to cause loss of function, impairing transcription termination.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in TTF2.
Dominant Negative (DN)
Some missense mutations in the helicase domain may act in a dominant-negative manner by interfering with wild-type TTF2 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RNA polymerase II transcription termination
• mRNA 3'-end processing
• DNA repair
Protein Summary
TTF2 is a 110 kDa nuclear protein belonging to the DEAD/DEAH box helicase family. It contains an N-terminal helicase domain and a C-terminal domain involved in protein-protein interactions. TTF2 binds to RNA polymerase II and promotes its release from the DNA template after transcription termination. It also interacts with the exosome complex and other RNA processing factors. The protein is essential for proper gene expression and genome integrity.
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