TNFAIP2
TNF Alpha Induced Protein 2
Gene Information Card
| Symbol | TNFAIP2 |
|---|---|
| Full Name | TNF Alpha Induced Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.32 |
| NCBI Gene ID | 7127 ncbi.nlm.nih.gov/gene/7127 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q03169 |
| OMIM ID | 603596 |
| HGNC ID | 11895 |
| Aliases | B94, EXOC3L3 |
Description
TNFAIP2 (TNF Alpha Induced Protein 2) is a protein-coding gene induced by tumor necrosis factor alpha (TNF-α). It plays roles in inflammation, angiogenesis, cell migration, and exocytosis. The protein is a component of the exocyst complex and is involved in vesicle trafficking. TNFAIP2 is implicated in various cancers and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Behçet's disease | TNFAIP2 polymorphisms associated with increased risk; involved in inflammatory response | OMIM 603596; NCBI Gene |
| Nasopharyngeal carcinoma | Overexpression promotes metastasis via NF-κB pathway | COSMIC; PubMed studies |
| Acute myeloid leukemia | Fusion transcripts involving TNFAIP2 reported | COSMIC; NCBI Gene |
| Gastric cancer | Upregulation linked to poor prognosis and angiogenesis | PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 9.5 | Medium |
| Liver | 6.2 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 8.5 | Medium expression |
| K562 | 11.2 | Medium expression |
| A549 | 7.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.1234G>A (p.Glu412Lys) | Missense | 0.005% (gnomAD) | Possibly damaging (in silico) |
| c.789_790insA | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.789_790insA) predicted to cause loss of function via nonsense-mediated decay.
Gain of Function (GOF)
Not well characterized; some missense variants may alter protein interactions.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TNF signaling pathway (KEGG hsa04668)
• NF-kappa B signaling pathway (KEGG hsa04064)
• Exocyst pathway (Reactome R-HSA-5620912)
Protein Summary
The TNFAIP2 protein (UniProt Q03169) is a 654-amino acid protein with a molecular weight of approximately 73 kDa. It contains a Sec6 domain and is a component of the exocyst complex, which tethers vesicles to the plasma membrane during exocytosis. The protein is induced by TNF-α and localizes to the cytoplasm and plasma membrane. It is involved in cell migration, angiogenesis, and inflammatory responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNFAIP2 Knockout HEK293 Cell Line | EDJ-KQ5949 | Human | 7127 | Details Get a Quote |
| TNFAIP2 Knockout A-549 Cell Line | EDJ-KQ29504 | Human | 7127 | Details Get a Quote |
| TNFAIP2 Knockout HCT 116 Cell Line | EDJ-KQ29505 | Human | 7127 | Details Get a Quote |
| TNFAIP2 Knockout HeLa Cell Line | EDJ-KQ29506 | Human | 7127 | Details Get a Quote |
