TCF19: Transcription Factor 19 – A Key Regulator in Cell Cycle and Diabetes
Comprehensive genomic and proteomic overview of TCF19, a gene implicated in type 1 diabetes, cancer, and transcriptional regulation.
Gene Information Card
| Symbol | TCF19 |
|---|---|
| Full Name | Transcription Factor 19 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.3 (MHC class III region) |
| NCBI Gene ID | 6941 ncbi.nlm.nih.gov/gene/6941 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9Y242 |
| OMIM ID | 600912 |
| HGNC ID | 11631 |
| Aliases | SC1, TCF-19, SC1-1, SC1-2 |
Description
TCF19 (Transcription Factor 19) is a protein-coding gene located in the MHC class III region on chromosome 6p21.3. It encodes a transcription factor involved in cell cycle regulation, particularly during the G1/S transition. TCF19 is expressed in a variety of tissues and has been associated with type 1 diabetes susceptibility, as well as roles in cancer progression and immune response. The protein contains a PHD-type zinc finger domain and a transactivation domain, mediating DNA binding and transcriptional activation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 1 Diabetes | TCF19 variants in the MHC region influence autoimmune susceptibility; altered expression may affect pancreatic beta-cell function. | OMIM 600912; GWAS studies (PMID: 17632545) |
| Hepatocellular Carcinoma | Overexpression of TCF19 promotes cell proliferation and tumor growth via cell cycle dysregulation. | COSMIC; PMID: 29367642 |
| Melanoma | TCF19 is upregulated in melanoma and may contribute to tumor progression through transcriptional reprogramming. | COSMIC; PMID: 25605242 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 9.2 | Medium |
| Testis | 8.1 | Medium |
| Lung | 6.4 | Low |
| Liver | 5.3 | Low |
| Pancreas | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HeLa (cervical) | 12.1 | Medium expression |
| A549 (lung) | 8.9 | Medium expression |
| HepG2 (liver) | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | <0.1% | Unknown functional impact; reported in ClinVar |
| c.202G>A (p.Gly68Arg) | Missense | <0.1% | Likely benign |
| c.415C>T (p.Arg139Trp) | Missense | <0.1% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in TCF19.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function in tumorigenesis.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell Cycle
• G1/S Transition (Reactome: R-HSA-69278)
• Transcriptional Regulation by TP53 (Reactome: R-HSA-3700989)
Protein Summary
TCF19 is a 352-amino acid transcription factor containing a PHD-type zinc finger domain (residues 1–50) and a C-terminal transactivation domain. It localizes to the nucleus and binds DNA to regulate genes involved in cell cycle progression, particularly at the G1/S checkpoint. The protein is expressed in lymphoid tissues and is upregulated in several cancers. Post-translational modifications include phosphorylation, which may modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TCF19 Knockout HEK293 Cell Line | EDJ-KQ5903 | Human | 6941 | Details Get a Quote |
| TCF19 Knockout A-549 Cell Line | EDJ-KQ29420 | Human | 6941 | Details Get a Quote |
| TCF19 Knockout HCT 116 Cell Line | EDJ-KQ29421 | Human | 6941 | Details Get a Quote |
| TCF19 Knockout HeLa Cell Line | EDJ-KQ29422 | Human | 6941 | Details Get a Quote |
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