TRAF5 Gene: TNF Receptor-Associated Factor 5
Key regulator of NF-kappaB signaling and immune response
Gene Information Card
| Symbol | TRAF5 |
|---|---|
| Full Name | TNF receptor-associated factor 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.2 |
| NCBI Gene ID | 7188 ncbi.nlm.nih.gov/gene/7188 |
| Ensembl ID | ENSG00000182512 |
| UniProt ID | O00463 |
| OMIM ID | 602356 |
| HGNC ID | 12033 |
| Aliases | RNF84, MGC:39763 |
Description
TRAF5 (TNF receptor-associated factor 5) is a member of the TRAF family of proteins that mediate signal transduction from TNF receptors and interleukin-1 receptors. It functions as an E3 ubiquitin ligase and is critical for the activation of NF-kappaB and MAP kinase pathways, playing a key role in immune regulation, inflammation, and cell survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lymphoma | Dysregulation of NF-kappaB signaling via TRAF5 mutations or overexpression | PMID: 23525077 |
| Autoimmune diseases (e.g., rheumatoid arthritis) | TRAF5 polymorphisms associated with altered immune response | PMID: 20453841 |
| Inflammatory bowel disease | TRAF5 variants linked to increased NF-kappaB activity | PMID: 21102463 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | High |
| Spleen | 10.2 | High |
| Bone marrow | 8.7 | Medium |
| Lung | 6.3 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | High expression in embryonic kidney cells |
| Jurkat | 22.1 | T-cell line, high expression |
| HeLa | 9.8 | Cervical cancer cell line, moderate expression |
| K562 | 7.2 | Leukemia cell line, moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Trp) | Missense | 0.02% | Potential loss of function in NF-kappaB activation |
| c.1456G>A (p.Glu486Lys) | Missense | 0.01% | Unknown effect |
| c.1789_1791del (p.Lys597del) | In-frame deletion | 0.005% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Mutations impairing E3 ubiquitin ligase activity or NF-kappaB activation, e.g., p.Arg335Trp.
Gain of Function (GOF)
Not well characterized; overexpression in some cancers may enhance NF-kappaB signaling.
Dominant Negative (DN)
Truncated or misfolded TRAF5 proteins that interfere with wild-type TRAF5 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kappaB signaling pathway (KEGG: hsa04064)
• TNF signaling pathway (KEGG: hsa04668)
• Toll-like receptor signaling pathway (KEGG: hsa04620)
• CD40 signaling pathway (Reactome: R-HSA-5621575)
Protein Summary
TRAF5 is a 558-amino acid protein containing a RING-type zinc finger domain (E3 ubiquitin ligase), multiple TRAF-type zinc fingers, and a C-terminal TRAF domain that mediates receptor binding and oligomerization. It is predominantly cytoplasmic and translocates to the membrane upon receptor activation. TRAF5 is essential for CD40- and LTβR-mediated NF-kappaB activation, influencing B-cell survival, lymphoid organogenesis, and inflammatory responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAF5 Knockout HEK293 Cell Line | EDJ-KQ603 | Human | 7188 | Details Get a Quote |
| TRAF5 Knockout A-549 Cell Line | EDJ-KQ18038 | Human | 7188 | Details Get a Quote |
| TRAF5 Knockout HCT 116 Cell Line | EDJ-KQ19050 | Human | 7188 | Details Get a Quote |
| TRAF5 Knockout HeLa Cell Line | EDJ-KQ19051 | Human | 7188 | Details Get a Quote |
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