TNFSF12-TNFSF13 readthrough (TNFSF12-TNFSF13)
A readthrough transcript encoding a fusion protein of TNFSF12 (TWEAK) and TNFSF13 (APRIL), involved in immune regulation and apoptosis.
Gene Information Card
| Symbol | TNFSF12-TNFSF13 |
|---|---|
| Full Name | TNFSF12-TNFSF13 readthrough (NEDD8-MDP1 readthrough) |
| Gene Type | readthrough transcript (protein-coding) |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 100533188 ncbi.nlm.nih.gov/gene/100533188 |
| Ensembl ID | ENSG00000248871 |
| UniProt ID | O43508 (TNFSF12); O75888 (TNFSF13) |
| OMIM ID | 604472 (TNFSF12); 604472 (TNFSF13) |
| HGNC ID | HGNC:11927 (TNFSF12); HGNC:11928 (TNFSF13) |
| Aliases | TWEAK-APRIL, TWE-PRIL, TNFSF12-TNFSF13 readthrough |
Description
TNFSF12-TNFSF13 is a readthrough transcript that fuses the coding sequences of TNFSF12 (TWEAK) and TNFSF13 (APRIL), two members of the tumor necrosis factor (TNF) superfamily. The resulting fusion protein combines the extracellular domain of TWEAK with the receptor-binding domain of APRIL, modulating immune responses, apoptosis, and cell proliferation. This readthrough is expressed in various tissues and is implicated in cancer and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | Altered APRIL signaling promotes B-cell survival and autoantibody production | ClinVar, PMID: 20037588 |
| Multiple myeloma | Fusion protein may enhance tumor cell survival via APRIL receptors | COSMIC, PMID: 16912224 |
| Rheumatoid arthritis | TWEAK-APRIL fusion modulates inflammatory cytokine production | NCBI Gene, PMID: 17947510 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.7 | Low |
| Lung | 6.3 | Low |
| Colon | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 15.3 | High expression of APRIL domain |
| U-937 (monocytic leukemia) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.485G>A (p.Arg162His) | missense | <0.01% | Unknown functional effect |
| c.712C>T (p.Pro238Ser) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in TNFSF12-TNFSF13.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • tumor necrosis factor receptor binding (GO:0005164) | • immune response (GO:0006955) |
| • apoptotic process (GO:0006915) | • regulation of apoptotic process (GO:0042981) |
Pathways
• TNF signaling pathway (KEGG: hsa04668)
• NF-kappa B signaling pathway (KEGG: hsa04064)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
Protein Summary
The TNFSF12-TNFSF13 readthrough encodes a fusion protein that combines the N-terminal region of TWEAK (TNFSF12) with the C-terminal receptor-binding domain of APRIL (TNFSF13). This chimeric protein retains the ability to bind to APRIL receptors (BCMA, TACI) and TWEAK receptor (Fn14), modulating B-cell survival, apoptosis, and inflammatory responses. Expression is highest in lymphoid tissues and certain cancer cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNFSF12-TNFSF13 Knockout HEK293 Cell Line | EDJ-KQ52333 | Human | 407977 | Details Get a Quote |
| TNFSF12-TNFSF13 Knockout HeLa Cell Line | EDJ-KQ60352 | Human | 407977 | Details Get a Quote |
| TNFSF12-TNFSF13 Knockout A-549 Cell Line | EDJ-KQ68819 | Human | 407977 | Details Get a Quote |
| TNFSF12-TNFSF13 Knockout HCT 116 Cell Line | EDJ-KQ77183 | Human | 407977 | Details Get a Quote |
