GTF3C2 Gene - General Transcription Factor IIIC Subunit 2
Essential component of RNA polymerase III transcription initiation complex
Gene Information Card
| Symbol | GTF3C2 |
|---|---|
| Full Name | General Transcription Factor IIIC Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 2976 ncbi.nlm.nih.gov/gene/2976 |
| Ensembl ID | ENSG00000115241 |
| UniProt ID | Q8WUA4 |
| OMIM ID | 604883 |
| HGNC ID | 4666 |
| Aliases | TFIIIC110, TF3C2, TFIIIC-beta |
Description
GTF3C2 encodes the 110 kDa subunit of the general transcription factor IIIC (TFIIIC), a multi-subunit complex that recruits RNA polymerase III to its target promoters. TFIIIC recognizes promoter elements (A and B boxes) of genes encoding tRNAs, 5S rRNA, U6 snRNA, and other small non-coding RNAs. The GTF3C2 subunit is essential for complex assembly and promoter binding.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | N/A | N/A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Adrenal gland | 9.8 | Medium |
| Lymph node | 8.7 | Low |
| Brain | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Moderate expression |
| HeLa | 12.1 | Moderate expression |
| K562 | 9.4 | Low expression |
| HepG2 | 8.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.567_568insA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause truncation or nonsense-mediated decay, impairing TFIIIC complex assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations characterized.
View complete mutation data：
Gene Ontology (GO)
| • RNA polymerase III transcription factor activity (GO:0000994) | • transcription by RNA polymerase III (GO:0006383) |
| • nucleus (GO:0005634) | • transcription factor TFIIIC complex (GO:0000127) |
Pathways
• RNA polymerase III transcription (Reactome: R-HSA-76061)
• TFIIIC-mediated transcription initiation (Reactome: R-HSA-76066)
Protein Summary
GTF3C2 encodes the 110 kDa subunit (TFIIIC110) of the TFIIIC complex. This subunit interacts with TFIIIC90 and TFIIIC220 to form the core complex that binds promoter DNA. It is required for the recruitment of TFIIIB and RNA polymerase III. The protein contains a tetratricopeptide repeat (TPR) domain involved in protein-protein interactions.
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|---|---|---|---|---|
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