TCF7 (Transcription Factor 7) - A Key Regulator in T Cell Development and Cancer
Comprehensive gene overview of TCF7, including genomic information, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | TCF7 |
|---|---|
| Full Name | Transcription Factor 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 6932 ncbi.nlm.nih.gov/gene/6932 |
| Ensembl ID | ENSG00000181029 |
| UniProt ID | P36402 |
| OMIM ID | 189908 |
| HGNC ID | 11639 |
| Aliases | TCF-1, TCF1, FLJ42351 |
Description
TCF7 encodes the T-cell-specific transcription factor 1 (TCF-1), a member of the TCF/LEF family of high-mobility group (HMG) box transcription factors. TCF-1 is a critical regulator of T cell development, homeostasis, and function, acting as a downstream effector of the Wnt signaling pathway. It is involved in the regulation of genes essential for T cell lineage commitment and maturation. TCF7 is also implicated in various cancers, where its expression and mutations can influence tumor progression and immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| T-cell acute lymphoblastic leukemia (T-ALL) | TCF7 mutations and aberrant expression contribute to leukemogenesis by altering T cell differentiation and promoting self-renewal. | COSMIC, ClinVar |
| Colorectal cancer | TCF7 is part of the Wnt signaling pathway; dysregulation can lead to uncontrolled cell proliferation. | COSMIC |
| Breast cancer | TCF7 expression is associated with tumor progression and poor prognosis in some subtypes. | COSMIC |
| Hepatocellular carcinoma | TCF7 overexpression is linked to cancer stem cell properties and poor survival. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.4 | Medium |
| Spleen | 10.8 | Medium |
| Thymus | 9.5 | Medium |
| Bone marrow | 6.2 | Low |
| Blood | 5.1 | Low |
| Lung | 2.3 | Low |
| Colon | 1.8 | Low |
| Liver | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T cell leukemia) | 15.2 | High expression; used as model for T cell signaling |
| K562 (CML) | 3.4 | Moderate expression |
| MCF7 (Breast cancer) | 1.2 | Low expression |
| HepG2 (Liver cancer) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Ter) | Nonsense | 0.5% in T-ALL | Truncated protein, loss of DNA binding |
| c.1244G>A (p.Arg415Gln) | Missense | 0.2% in colorectal cancer | Altered DNA binding affinity |
| c.1456A>G (p.Thr486Ala) | Missense | 0.1% in breast cancer | Potential impact on protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated TCF-1 protein, resulting in loss of transcriptional activity and impaired T cell development.
Gain of Function (GOF)
Rare missense mutations that enhance transcriptional activity, potentially promoting oncogenic Wnt signaling.
Dominant Negative (DN)
Mutations that produce a truncated protein capable of interfering with wild-type TCF-1 function, disrupting normal gene regulation.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • chromatin binding | • protein heterodimerization activity |
| • Wnt signaling pathway | • T cell differentiation |
| • regulation of transcription by RNA polymerase II |
Pathways
• Wnt signaling pathway
• T cell receptor signaling pathway
• Hippo signaling pathway
• Signaling pathways regulating pluripotency of stem cells
Protein Summary
TCF-1 is a 48 kDa protein containing an N-terminal beta-catenin binding domain and a central HMG box DNA-binding domain. It binds to the consensus sequence 5'-A/T A/T CAAAG-3' and regulates gene expression in a context-dependent manner. TCF-1 is essential for the development of T cells in the thymus, where it controls the expression of key genes such as GATA3 and BCL11B. In mature T cells, TCF-1 is required for the maintenance of memory and stem-like properties. In cancer, TCF-1 can act as a tumor suppressor or oncogene depending on the cellular context.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TCF7 Knockout HEK293 Cell Line | EDJ-KQ338 | Human | 6932 | Details Get a Quote |
| TCF7L1 Knockout HEK293 Cell Line | EDJ-KQ339 | Human | 83439 | Details Get a Quote |
| TCF7L2 Knockout HEK293 Cell Line | EDJ-KQ340 | Human | 6934 | Details Get a Quote |
| TCF7 Knockout A-549 Cell Line | EDJ-KQ17973 | Human | 6932 | Details Get a Quote |
| TCF7L2 Knockout HeLa Cell Line | EDJ-KQ17974 | Human | 6934 | Details Get a Quote |
| TCF7 Knockout HCT 116 Cell Line | EDJ-KQ18509 | Human | 6932 | Details Get a Quote |
| TCF7 Knockout HeLa Cell Line | EDJ-KQ18510 | Human | 6932 | Details Get a Quote |
| TCF7L1 Knockout A-549 Cell Line | EDJ-KQ18511 | Human | 83439 | Details Get a Quote |
| TCF7L1 Knockout HCT 116 Cell Line | EDJ-KQ18512 | Human | 83439 | Details Get a Quote |
| TCF7L2 Knockout A-549 Cell Line | EDJ-KQ18513 | Human | 6934 | Details Get a Quote |
| TCF7L2 Knockout HCT 116 Cell Line | EDJ-KQ18514 | Human | 6934 | Details Get a Quote |
| TCF7L1 Knockout HeLa Cell Line | EDJ-KQ57434 | Human | 83439 | Details Get a Quote |
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