TNFRSF14 (HVEM) Gene
Tumor Necrosis Factor Receptor Superfamily Member 14
Gene Information Card
| Symbol | TNFRSF14 |
|---|---|
| Full Name | TNF Receptor Superfamily Member 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.32 |
| NCBI Gene ID | 8764 ncbi.nlm.nih.gov/gene/8764 |
| Ensembl ID | ENSG00000157873 |
| UniProt ID | Q92956 |
| OMIM ID | 602746 |
| HGNC ID | 11912 |
| Aliases | HVEM, ATAR, CD270, LIGHTR, TR2 |
Description
TNFRSF14 (HVEM) encodes a member of the tumor necrosis factor receptor superfamily. The protein functions as a molecular switch in immune regulation, binding both activating ligands (LIGHT) and inhibitory ligands (BTLA, CD160). It is involved in T-cell activation, co-stimulation, and immune checkpoint control. Aberrant expression and mutations are implicated in various cancers, autoimmune diseases, and viral infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diffuse large B-cell lymphoma | Somatic mutations and deletions of TNFRSF14 lead to loss of immune checkpoint function, promoting tumor immune evasion. | COSMIC, ClinVar |
| Hodgkin lymphoma | Recurrent inactivating mutations and copy number loss in Hodgkin Reed-Sternberg cells. | COSMIC, NCBI |
| Multiple sclerosis | Polymorphisms in TNFRSF14 associated with increased risk; altered HVEM-BTLA signaling. | OMIM, NCBI |
| Rheumatoid arthritis | Dysregulated HVEM/LIGHT axis contributes to synovial inflammation. | NCBI, OMIM |
| Herpes simplex virus infection | HVEM serves as entry receptor for HSV-1 and HSV-2. | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Blood | 8.2 | Medium |
| Lung | 6.1 | Low |
| Colon | 5.3 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| Jurkat | 22.3 | T-cell line, high |
| Raji | 18.7 | B-cell line, high |
| HeLa | 4.5 | Low |
| HepG2 | 3.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.208C>T (p.Arg70*) | Nonsense | 0.2% | Premature stop, loss of function |
| c.500_501del (p.Leu167fs) | Frameshift | 0.1% | Frameshift, loss of function |
| c.682G>A (p.Gly228Arg) | Missense | 0.05% | Alters ligand binding, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that truncate or abolish protein expression; observed in DLBCL and Hodgkin lymphoma.
Gain of Function (GOF)
Not well documented; no recurrent activating mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
Not established; no evidence of dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
| • receptor activity | • tumor necrosis factor-activated receptor activity |
| • immune response | • cell surface receptor signaling pathway |
| • negative regulation of T cell activation | • positive regulation of T cell proliferation |
Pathways
• TNF receptor superfamily signaling
• LIGHT signaling pathway
• BTLA/HVEM immune checkpoint pathway
• NF-kappa B signaling
Protein Summary
The TNFRSF14 protein (HVEM) is a 283-amino-acid type I transmembrane receptor with an extracellular domain containing four cysteine-rich repeats. It interacts with LIGHT (TNFSF14) to provide co-stimulatory signals, and with BTLA and CD160 to deliver inhibitory signals. HVEM is widely expressed on immune cells and plays a critical role in balancing immune activation and tolerance. Its structure includes a cytoplasmic tail with TRAF-binding motifs that mediate downstream signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNFRSF14 Knockout HEK293 Cell Line | EDJ-KQ6355 | Human | 8764 | Details Get a Quote |
| Tnfrsf14(HVEM) Knockout MC-38 Cell Line | EDJ-KQ17924 | Mouse | 230979 | Details Get a Quote |
| TNFRSF14 Knockout HeLa Cell Line | EDJ-KQ30310 | Human | 8764 | Details Get a Quote |
| Tnfrsf14 (HVEM) Knockout MC-38 Cell Line | EDJ-KZ515 | Mouse | Details Get a Quote | |
| TNFRSF14 Knockout Vero Cell Line | EDJ-KZ516 | Monkey | 103225753 | Details Get a Quote |
| TNFRSF14 Knockout A-549 Cell Line | EDJ-KQ63484 | Human | 8764 | Details Get a Quote |
| TNFRSF14 Knockout HCT 116 Cell Line | EDJ-KQ71952 | Human | 8764 | Details Get a Quote |
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