TMED7-TICAM2 readthrough
A readthrough transcript linking TMED7 and TICAM2, involved in innate immune signaling and vesicular trafficking.
Gene Information Card
| Symbol | TMED7-TICAM2 |
|---|---|
| Full Name | TMED7-TICAM2 readthrough |
| Gene Type | readthrough (protein-coding) |
| Chromosomal Location | 5q23.1 |
| NCBI Gene ID | 100302692 ncbi.nlm.nih.gov/gene/100302692 |
| Ensembl ID | ENSG00000269335 |
| UniProt ID | Q86XR7 |
| OMIM ID | 616614 |
| HGNC ID | 44233 |
| Aliases | TICAM2, TMED7, TICAM-2, TRIF-related adapter molecule, TIR domain-containing adapter molecule 2 |
Description
TMED7-TICAM2 is a readthrough transcript that combines exons from the TMED7 (transmembrane emp24 domain trafficking protein 7) and TICAM2 (TIR domain containing adaptor molecule 2) genes. The resulting protein is involved in Toll-like receptor (TLR) signaling pathways, particularly as an adaptor for TLR4 and TLR3, mediating innate immune responses. TMED7 contributes to vesicular trafficking, while TICAM2 provides the TIR domain essential for signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infectious diseases (e.g., viral/bacterial infections) | Impaired TLR signaling due to TICAM2 dysfunction reduces interferon production | PMID: 15690042 |
| Autoimmune disorders | Altered TICAM2 expression may dysregulate inflammatory responses | PMID: 19124732 |
| Cancer (e.g., colorectal, breast) | TMED7-TICAM2 readthrough may influence tumor microenvironment via immune modulation | PMID: 25636834 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression in transfected cells |
| THP-1 | 9.5 | Monocytic cell line, moderate expression |
| HeLa | 7.2 | Low expression |
| HepG2 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.211C>T (p.Arg71Trp) | Missense | <0.01% | Reduced TIR domain interaction with TRIF |
| c.358G>A (p.Gly120Ser) | Missense | <0.01% | Impaired TLR4 signaling |
| c.1-?_*_del | Deletion | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Deletions or missense mutations in the TICAM2 region that disrupt TIR domain integrity or protein stability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Mutations that produce truncated proteins interfering with wild-type TICAM2 signaling.
View complete mutation data：
Gene Ontology (GO)
| • signal transduction (GO:0007165) | • TRIF-dependent toll-like receptor signaling pathway (GO:0035666) |
| • innate immune response (GO:0045087) | • intracellular protein transport (GO:0006886) |
| • integral component of membrane (GO:0016021) |
Pathways
• Toll-like receptor signaling pathway (KEGG: hsa04620)
• TRIF-dependent TLR signaling (Reactome: R-HSA-166016)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
The TMED7-TICAM2 readthrough protein is a 235-amino acid transmembrane protein that combines a TMED7-derived N-terminal region involved in vesicular trafficking with a C-terminal TIR domain from TICAM2. It localizes to endosomes and the plasma membrane, where it acts as an adaptor for TLR3 and TLR4, recruiting TRIF to initiate interferon and inflammatory cytokine production. The protein is essential for antiviral and antibacterial innate immunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMED7-TICAM2 Knockout HEK293 Cell Line | EDJ-KQ52449 | Human | 100302736 | Details Get a Quote |
| TMED7-TICAM2 Knockout HeLa Cell Line | EDJ-KQ60885 | Human | 100302736 | Details Get a Quote |
| TMED7-TICAM2 Knockout A-549 Cell Line | EDJ-KQ69358 | Human | 100302736 | Details Get a Quote |
| TMED7-TICAM2 Knockout HCT 116 Cell Line | EDJ-KQ77713 | Human | 100302736 | Details Get a Quote |
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