TNFRSF1B Gene (TNF Receptor Superfamily Member 1B)
Key regulator of TNF-alpha signaling, immune modulation, and apoptosis
Gene Information Card
| Symbol | TNFRSF1B |
|---|---|
| Full Name | TNF Receptor Superfamily Member 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 7133 ncbi.nlm.nih.gov/gene/7133 |
| Ensembl ID | ENSG00000028137 |
| UniProt ID | P20333 |
| OMIM ID | 191191 |
| HGNC ID | 11917 |
| Aliases | TNFR2, TNFBR, TNFR80, CD120b, p75, p80 TNF-R |
Description
TNFRSF1B (TNFR2) encodes a member of the tumor necrosis factor receptor superfamily. This receptor is primarily expressed on immune cells and mediates signals for cell survival, proliferation, and inflammation. It binds TNF-alpha and lymphotoxin-alpha, activating NF-kappaB and MAPK pathways. TNFR2 plays a critical role in regulatory T cell function and immune homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | TNFR2 signaling promotes inflammatory cytokine production and T cell activation | GWAS and functional studies (OMIM 191191) |
| Systemic Lupus Erythematosus | Altered TNFR2 expression affects immune tolerance and autoantibody production | Association studies (NCBI Gene 7133) |
| Multiple Sclerosis | TNFR2 variants influence oligodendrocyte survival and neuroinflammation | Case-control studies (ClinVar) |
| Cancer (various) | TNFR2 on tumor cells and Tregs supports immune evasion and tumor growth | Expression and functional studies (COSMIC) |
| Sepsis | Soluble TNFR2 levels correlate with disease severity and outcome | Biomarker studies (UniProt P20333) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood | 12.5 | High |
| Spleen | 8.2 | Medium |
| Lung | 4.1 | Medium |
| Bone Marrow | 3.8 | Medium |
| Lymph Node | 6.0 | Medium |
| Brain | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T cell) | 15.2 | High expression |
| THP-1 (monocyte) | 10.8 | High expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HeLa (cervical) | 1.5 | Low expression |
| K562 (leukemia) | 7.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1061622 (M196R) | Missense | ~20% (global) | Alters receptor shedding and signaling |
| rs3397 (T587G) | Missense | ~15% (global) | Associated with autoimmune disease risk |
| c.676C>T (p.Arg226Cys) | Missense | Rare | Impaired ligand binding (ClinVar) |
| c.1123G>A (p.Gly375Ser) | Missense | Rare | Reduced cell surface expression |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., Arg226Cys) reduce TNF-alpha binding and downstream signaling.
Gain of Function (GOF)
Not well characterized; some variants may enhance NF-kappaB activation.
Dominant Negative (DN)
Not reported for TNFRSF1B.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005031 – tumor necrosis factor-activated receptor activity | • GO:0007165 – signal transduction |
| • GO:0043123 – positive regulation of I-kappaB kinase/NF-kappaB signaling | • GO:0006915 – apoptotic process |
| • GO:0006955 – immune response | • GO:0005886 – plasma membrane |
Pathways
• TNF signaling pathway (KEGG hsa04668)
• NF-kappa B signaling pathway (KEGG hsa04064)
• Apoptosis (KEGG hsa04210)
• Cytokine-cytokine receptor interaction (KEGG hsa04060)
Protein Summary
TNFRSF1B (TNFR2) is a 461-amino acid transmembrane glycoprotein with an extracellular domain containing four cysteine-rich repeats, a transmembrane domain, and a cytoplasmic tail lacking a death domain. It binds TNF-alpha with high affinity and recruits TRAF2 to activate NF-kappaB and MAPK pathways. TNFR2 is predominantly expressed on immune cells, including Tregs, monocytes, and endothelial cells, and its soluble form (sTNFR2) is generated by proteolytic shedding. The receptor is implicated in immune regulation, inflammation, and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNFRSF1B Knockout HEK293 Cell Line | EDJ-KQ900 | Human | 7133 | Details Get a Quote |
| Tnfrsf1b Knockout CT26.WT Cell Line | EDJ-KZ52 | Mouse | 21938 | Details Get a Quote |
| Tnfrsf1b Knockout MC-38 Cell Line | EDJ-KZ53 | Mouse | 7133 | Details Get a Quote |
| Tnfrsf1b Knockout 4T1 Cell Line | EDJ-KZ518 | Mouse | 21938 | Details Get a Quote |
| TNFRSF1B Knockout HeLa Cell Line | EDJ-KQ54677 | Human | 7133 | Details Get a Quote |
| TNFRSF1B Knockout A-549 Cell Line | EDJ-KQ63160 | Human | 7133 | Details Get a Quote |
| TNFRSF1B Knockout HCT 116 Cell Line | EDJ-KQ71634 | Human | 7133 | Details Get a Quote |
| TNFRSF1B Knockout HAP1 Cell Line | EDC08051 | Human | 7133 | Details Get a Quote |
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