VTCN1 (V-Set Domain Containing T Cell Activation Inhibitor 1)
Immune checkpoint regulator and potential therapeutic target in cancer
Gene Information Card
| Symbol | VTCN1 |
|---|---|
| Full Name | V-set domain containing T cell activation inhibitor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.1 |
| NCBI Gene ID | 79679 ncbi.nlm.nih.gov/gene/79679 |
| Ensembl ID | ENSG00000134258 |
| UniProt ID | Q7Z7D3 |
| OMIM ID | 608162 |
| HGNC ID | 28873 |
| Aliases | B7-H4, B7S1, B7X, PRO1291 |
Description
VTCN1 (V-set domain containing T cell activation inhibitor 1) encodes a member of the B7 family of immune regulatory proteins. The encoded protein, B7-H4, is a type I transmembrane protein that negatively regulates T cell-mediated immune responses by inhibiting T cell proliferation, cytokine production, and cell cycle progression. It is expressed on antigen-presenting cells and various tumor cells, contributing to immune evasion. VTCN1 is considered an immune checkpoint molecule and a potential target for cancer immunotherapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of B7-H4 on tumor cells inhibits T cell activation, promoting immune evasion | ClinVar, COSMIC |
| Ovarian cancer | B7-H4 expression correlates with poor prognosis and suppression of anti-tumor immunity | ClinVar, COSMIC |
| Non-small cell lung cancer | B7-H4 upregulation associated with reduced T cell infiltration and worse survival | ClinVar |
| Renal cell carcinoma | B7-H4 expression on tumor cells and tumor-infiltrating macrophages linked to immune suppression | ClinVar |
| Endometrial cancer | B7-H4 overexpression promotes tumor progression and immune escape | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 0.5 | Low |
| Ovary | 0.3 | Low |
| Lung | 0.4 | Low |
| Kidney | 0.6 | Low |
| Endometrium | 0.7 | Low |
| Placenta | 1.2 | Medium |
| Spleen | 0.2 | Not detected |
| Thymus | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 0.8 | Moderate expression |
| OVCAR3 (ovarian cancer) | 1.1 | Moderate expression |
| A549 (lung cancer) | 0.6 | Low expression |
| HEK293 (embryonic kidney) | 0.3 | Low expression |
| Jurkat (T cell) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; likely loss of function |
| c.200C>T (p.Pro67Leu) | Missense | <0.1% | Unknown functional effect |
| c.500G>A (p.Arg167Gln) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Rare missense mutations may disrupt protein folding or membrane localization, reducing inhibitory function.
Gain of Function (GOF)
No documented gain-of-function mutations in VTCN1.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：ClinVar: https://www.clinvar.com/gene/79679 COSMIC: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=VTCN1
Gene Ontology (GO)
| • negative regulation of T cell proliferation | • immune response |
| • cell surface receptor signaling pathway | • external side of plasma membrane |
| • protein binding |
Pathways
• PD-1 signaling
• B7 family-mediated immune regulation
• T cell receptor signaling pathway
Protein Summary
B7-H4 is a 282-amino acid type I transmembrane protein with a single immunoglobulin-like V-set domain. It acts as a co-inhibitory molecule, binding to an unknown receptor on activated T cells to suppress proliferation and cytokine production. The protein is glycosylated and expressed on antigen-presenting cells and many tumor types, where it contributes to immune evasion. Its extracellular domain is a target for therapeutic antibodies in cancer immunotherapy.
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VTCN1 Knockout HEK293 Cell Line | EDJ-KQ2410 | Human | 79679 | Details Get a Quote |
| Vtcn1 Knockout B16-F10 Cell Line | EDJ-KZ80 | Mouse | 79679 | Details Get a Quote |
| VTCN1 Knockout HeLa Cell Line | EDJ-KQ57204 | Human | 79679 | Details Get a Quote |
| VTCN1 Knockout A-549 Cell Line | EDJ-KQ65719 | Human | 79679 | Details Get a Quote |
| VTCN1 Knockout HCT 116 Cell Line | EDJ-KQ74136 | Human | 79679 | Details Get a Quote |
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