TRAF7 Gene
TNF Receptor Associated Factor 7
Gene Information Card
| Symbol | TRAF7 |
|---|---|
| Full Name | TNF Receptor Associated Factor 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 84231 ncbi.nlm.nih.gov/gene/84231 |
| Ensembl ID | ENSG00000131669 |
| UniProt ID | Q6B0K9 |
| OMIM ID | 606692 |
| HGNC ID | 20456 |
| Aliases | RNF119, MGC12972, MGC12973 |
Description
TRAF7 (TNF Receptor Associated Factor 7) is a protein-coding gene that encodes a member of the TRAF family of proteins. The protein functions as a signal transducer for TNF receptors and is involved in the regulation of cell survival, apoptosis, and immune responses. It contains a RING-type zinc finger domain and a coiled-coil domain, and it interacts with various signaling molecules including MEKK3 and p53. Mutations in TRAF7 are associated with developmental disorders and cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental delay with intellectual disability and dysmorphic facies (DDID) | Missense mutations in TRAF7 disrupt protein function, leading to impaired signaling and neurodevelopmental abnormalities. | ClinVar, OMIM |
| Meningioma | Somatic missense mutations (e.g., p.Arg641Gln) in TRAF7 are recurrent in meningiomas, suggesting a role in tumorigenesis through altered NF-κB signaling. | COSMIC, ClinVar |
| Breast cancer | TRAF7 mutations have been identified in breast cancer samples, potentially affecting cell proliferation and apoptosis pathways. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.8 | Low |
| Lung | 7.4 | Low |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.5 | Cervical cancer cells |
| K562 | 7.1 | Leukemia cells |
| MCF7 | 9.0 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg641Gln | Missense | Recurrent in meningioma | Alters protein function, potential gain-of-function |
| p.Arg641Trp | Missense | Rare | Unknown |
| p.Arg641Leu | Missense | Rare | Unknown |
| p.Arg641Pro | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some mutations may reduce ubiquitin ligase activity.
Gain of Function (GOF)
p.Arg641Gln is suspected to be a gain-of-function mutation in meningioma, enhancing NF-κB signaling.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TNF signaling pathway (KEGG: hsa04668)
• NF-kappa B signaling pathway (KEGG: hsa04064)
• Apoptosis (KEGG: hsa04210)
Protein Summary
The TRAF7 protein is a 670-amino acid E3 ubiquitin ligase that contains a RING finger domain, a coiled-coil region, and a TRAF domain. It mediates ubiquitination and degradation of target proteins, and it plays a role in signal transduction from TNF receptors. TRAF7 also interacts with MEKK3 to activate the JNK and NF-κB pathways. Its expression is ubiquitous, with higher levels in brain and testis. Mutations in the TRAF domain (e.g., p.Arg641) are recurrent in meningiomas and are associated with altered signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAF7 Knockout HEK293 Cell Line | EDJ-KQ3267 | Human | 84231 | Details Get a Quote |
| TRAF7 Knockout A-549 Cell Line | EDJ-KQ23425 | Human | 84231 | Details Get a Quote |
| TRAF7 Knockout HCT 116 Cell Line | EDJ-KQ24815 | Human | 84231 | Details Get a Quote |
| TRAF7 Knockout HeLa Cell Line | EDJ-KQ24816 | Human | 84231 | Details Get a Quote |
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