INAVA
Innate Immunity Activator Gene
Gene Information Card
| Symbol | INAVA |
|---|---|
| Full Name | Innate Immunity Activator |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 55765 ncbi.nlm.nih.gov/gene/55765 |
| Ensembl ID | ENSG00000143149 |
| UniProt ID | Q8N7B9 |
| OMIM ID | 615131 |
| HGNC ID | 25773 |
| Aliases | C1orf106, FLJ20643, MGC131891 |
Description
INAVA (Innate Immunity Activator) is a protein-coding gene located on chromosome 1q42.13. It encodes a protein involved in the regulation of innate immune responses, particularly through the modulation of NF-κB signaling and cytokine production. The protein is also implicated in intestinal epithelial barrier function and has been associated with inflammatory bowel disease (IBD) and colorectal cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory Bowel Disease (IBD) | INAVA variants may impair intestinal epithelial barrier integrity and alter innate immune signaling, contributing to IBD susceptibility. | GWAS studies (PMID: 23128233, 26192919) |
| Colorectal Cancer | Altered INAVA expression may affect tumor microenvironment and immune surveillance. | Expression studies (COSMIC, TCGA) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Small Intestine | 10.8 | Medium |
| Lung | 6.2 | Low |
| Spleen | 5.1 | Low |
| Whole Blood | 1.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (Colorectal) | 15.2 | Intestinal epithelial model |
| HT-29 (Colorectal) | 11.0 | Colon adenocarcinoma line |
| A549 (Lung) | 4.5 | Lung carcinoma line |
| THP-1 (Monocyte) | 3.8 | Monocytic leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.146C>T (p.Pro49Leu) | Missense | <0.01% | Unknown functional impact |
| c.512G>A (p.Arg171Gln) | Missense | <0.01% | May affect protein stability |
| c.1027C>T (p.Arg343*) | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg343*) are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kappa B signaling pathway (Reactome: R-HSA-975138)
• Toll-like receptor signaling pathway (KEGG: hsa04620)
• Innate Immune System (Reactome: R-HSA-168249)
Protein Summary
The INAVA protein (UniProt Q8N7B9) is a 475-amino acid cytoplasmic protein that acts as a scaffold in innate immune signaling. It interacts with TRAF6 and TAK1 to promote NF-κB activation upon TLR stimulation. INAVA also localizes to cell-cell junctions in intestinal epithelial cells, where it contributes to barrier integrity. Its expression is enriched in gastrointestinal tissues, and genetic variants have been linked to inflammatory bowel disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INAVA Knockout HEK293 Cell Line | EDJ-KQ13835 | Human | 55765 | Details Get a Quote |
| INAVA Knockout A-549 Cell Line | EDJ-KQ43665 | Human | 55765 | Details Get a Quote |
| INAVA Knockout HCT 116 Cell Line | EDJ-KQ43666 | Human | 55765 | Details Get a Quote |
| INAVA Knockout HeLa Cell Line | EDJ-KQ43667 | Human | 55765 | Details Get a Quote |
