IGSF3
Immunoglobulin Superfamily Member 3: A Cell Adhesion and Signaling Molecule
Gene Information Card
| Symbol | IGSF3 |
|---|---|
| Full Name | Immunoglobulin Superfamily Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.1 |
| NCBI Gene ID | 3321 ncbi.nlm.nih.gov/gene/3321 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | O75054 |
| OMIM ID | 604514 |
| HGNC ID | 5956 |
| Aliases | EWI-3, CD101, V7 |
Description
IGSF3 (Immunoglobulin Superfamily Member 3) encodes a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The protein contains immunoglobulin-like domains and is involved in cell-cell adhesion, immune regulation, and signal transduction. IGSF3 is expressed in various tissues, including immune cells and epithelial cells, and has been implicated in cancer progression and inflammatory responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Altered expression may promote tumor cell adhesion and metastasis | NCBI Gene, COSMIC |
| Colorectal Cancer | Upregulation associated with poor prognosis and invasive phenotype | COSMIC, PubMed |
| Inflammatory Bowel Disease | Potential role in immune cell adhesion and gut inflammation | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 8.2 | Low |
| Colon | 7.1 | Low |
| Breast | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney, high expression |
| HeLa | 9.8 | Cervical cancer, moderate expression |
| MCF7 | 7.2 | Breast cancer, low expression |
| A549 | 6.1 | Lung cancer, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional impact, rare in population |
| c.567G>A (p.Trp189*) | Nonsense | <0.001% | Predicted loss of function |
| c.890_891insA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants are predicted to cause loss of function through premature truncation.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • immune response |
| • signal transduction | • plasma membrane |
| • immunoglobulin domain |
Pathways
• Cell adhesion molecules (CAMs)
• Immunoglobulin superfamily signaling
Protein Summary
IGSF3 is a 667-amino-acid transmembrane protein with five extracellular immunoglobulin-like domains, a single transmembrane region, and a short cytoplasmic tail. It mediates homophilic and heterophilic cell-cell adhesion, modulates immune cell interactions, and may influence tumor cell migration and invasion. Post-translational modifications include N-glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGSF3 Knockout HEK293 Cell Line | EDJ-KQ3347 | Human | 3321 | Details Get a Quote |
| IGSF3 Knockout A-549 Cell Line | EDJ-KQ24994 | Human | 3321 | Details Get a Quote |
| IGSF3 Knockout HCT 116 Cell Line | EDJ-KQ24995 | Human | 3321 | Details Get a Quote |
| IGSF3 Knockout HeLa Cell Line | EDJ-KQ24996 | Human | 3321 | Details Get a Quote |
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