TRAF2 Gene: TNF Receptor-Associated Factor 2
A central adaptor protein in TNF receptor signaling, NF-κB activation, and immune regulation
Gene Information Card
| Symbol | TRAF2 |
|---|---|
| Full Name | TNF receptor-associated factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 7186 ncbi.nlm.nih.gov/gene/7186 |
| Ensembl ID | ENSG00000127191 |
| UniProt ID | Q12933 |
| OMIM ID | 601895 |
| HGNC ID | 12032 |
| Aliases | TRAP3, MGC:45012 |
Description
TRAF2 (TNF receptor-associated factor 2) encodes a member of the TNF receptor-associated factor (TRAF) protein family. TRAF2 is a critical adaptor protein that mediates signal transduction from TNF receptors (TNFR1 and TNFR2) and other receptors, leading to activation of NF-κB and MAPK pathways. It plays a key role in regulating inflammation, apoptosis, and immune responses. TRAF2 contains a RING finger domain, zinc finger domains, and a TRAF domain, which mediate protein-protein interactions and ubiquitin ligase activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory diseases | TRAF2 regulates NF-κB activation; dysregulation leads to chronic inflammation | PMID: 15616592 |
| Autoimmune diseases | TRAF2 modulates T cell responses; altered expression linked to autoimmunity | PMID: 20037584 |
| Cancer | TRAF2 promotes cell survival via NF-κB; overexpression in various tumors | PMID: 21199817 |
| Immunodeficiency | TRAF2 mutations impair immune signaling, causing susceptibility to infections | PMID: 27693356 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | High |
| Spleen | 11.8 | High |
| Bone marrow | 10.2 | High |
| Lung | 7.5 | Medium |
| Liver | 6.3 | Medium |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| K562 | 12.8 | Leukemia cell line |
| A549 | 9.4 | Lung carcinoma |
| HepG2 | 7.1 | Liver cancer |
| MCF7 | 6.5 | Breast cancer |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1120C>T (p.Arg374Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.1015A>G (p.Lys339Glu) | Missense | Rare | Impaired NF-κB activation |
| c.1483C>T (p.Arg495Cys) | Missense | Rare | Altered TRAF domain function |
| c.2005_2006insA | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations impair TRAF2's ability to activate NF-κB, leading to defective immune responses and increased apoptosis.
Gain of Function (GOF)
Gain-of-function mutations are rare but may enhance NF-κB signaling, contributing to oncogenesis.
Dominant Negative (DN)
Dominant-negative mutations can interfere with wild-type TRAF2 function, disrupting TNF signaling.
View complete mutation data:
Gene Ontology (GO)
| • protein binding | • ubiquitin protein ligase activity |
| • signal transducer activity | • zinc ion binding |
| • NF-κB activation | • apoptotic process |
| • immune response | • TNF receptor binding |
Pathways
• TNF signaling pathway
• NF-κB signaling pathway
• MAPK signaling pathway
• Apoptosis
• RIG-I-like receptor signaling pathway
Protein Summary
TRAF2 is a 501-amino acid protein with a molecular weight of approximately 56 kDa. It contains a RING finger domain (residues 1-100), two zinc finger domains (residues 100-200), and a TRAF domain (residues 300-501) that mediates trimerization and interaction with receptors. TRAF2 functions as an E3 ubiquitin ligase, catalyzing K63-linked polyubiquitination of itself and other substrates, leading to activation of TAK1 and IKK complexes, ultimately activating NF-κB. It also interacts with cIAP1/2 to regulate apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAF2 Knockout HEK293 Cell Line | EDJ-KQ601 | Human | 7186 | Details Get a Quote |
| TRAF2 Knockout A-549 Cell Line | EDJ-KQ19043 | Human | 7186 | Details Get a Quote |
| TRAF2 Knockout HCT 116 Cell Line | EDJ-KQ19044 | Human | 7186 | Details Get a Quote |
| TRAF2 Knockout HeLa Cell Line | EDJ-KQ19045 | Human | 7186 | Details Get a Quote |
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