GTF3C4 Gene - General Transcription Factor IIIC Subunit 4
Essential component of RNA polymerase III transcription initiation complex
Gene Information Card
| Symbol | GTF3C4 |
|---|---|
| Full Name | General Transcription Factor IIIC Subunit 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 9329 ncbi.nlm.nih.gov/gene/9329 |
| Ensembl ID | ENSG00000125484 |
| UniProt ID | Q9UKN8 |
| OMIM ID | 604892 |
| HGNC ID | 4666 |
| Aliases | TFIIIC90, TF3C-4, TFIIIC-delta |
Description
GTF3C4 encodes the 90 kDa subunit (TFIIIC90) of the general transcription factor IIIC (TFIIIC) complex. TFIIIC is essential for RNA polymerase III-mediated transcription of small non-coding RNAs, including tRNAs, 5S rRNA, and U6 snRNA. The GTF3C4 subunit directly binds the TFIIIC complex and contributes to promoter recognition and transcription initiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (HSP) | Loss-of-function mutations in GTF3C4 impair TFIIIC assembly, reducing Pol III transcription and leading to axonal degeneration. | PMID: 32098966 |
| Intellectual disability | Homozygous missense variants in GTF3C4 disrupt TFIIIC function, affecting neuronal gene expression. | PMID: 32098966 |
| Cancer (pan-cancer) | Somatic mutations and altered expression of GTF3C4 may dysregulate Pol III transcription, contributing to tumorigenesis. | COSMIC v99 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | Medium |
| Brain (cerebellum) | 12.3 | Medium |
| Heart | 10.1 | Medium |
| Liver | 8.7 | Low |
| Lung | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 12.8 | High expression |
| K562 | 9.5 | Medium expression |
| HepG2 | 8.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | Rare | Loss of TFIIIC binding |
| c.1445G>A (p.Arg482Gln) | Missense | Rare | Impaired complex assembly |
| c.1822C>T (p.Arg608*) | Nonsense | Very rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that disrupt TFIIIC complex assembly or stability lead to reduced Pol III transcription.
Gain of Function (GOF)
Not reported for GTF3C4.
Dominant Negative (DN)
Not reported for GTF3C4.
View complete mutation data：
Gene Ontology (GO)
| • RNA polymerase III transcription factor activity (GO:0000994) | • transcription from RNA polymerase III promoter (GO:0006383) |
| • transcription factor TFIIIC complex (GO:0000127) | • nucleus (GO:0005634) |
Pathways
• RNA polymerase III transcription (Reactome: R-HSA-76061)
• TFIIIC complex assembly (Reactome: R-HSA-76066)
Protein Summary
GTF3C4 encodes the 90 kDa subunit (TFIIIC90) of the TFIIIC complex. This subunit is critical for the assembly and stability of the TFIIIC complex, which binds to promoter elements of RNA polymerase III genes. The protein contains a conserved domain that mediates interactions with other TFIIIC subunits and DNA. Mutations in GTF3C4 are associated with hereditary spastic paraplegia and intellectual disability.
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