IGSF8 (Immunoglobulin Superfamily Member 8)
A transmembrane glycoprotein involved in immune regulation, cell adhesion, and tumor suppression.
Gene Information Card
| Symbol | IGSF8 |
|---|---|
| Full Name | Immunoglobulin Superfamily Member 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.1 |
| NCBI Gene ID | 9318 ncbi.nlm.nih.gov/gene/9318 |
| Ensembl ID | ENSG00000162735 |
| UniProt ID | Q969P0 |
| OMIM ID | 609756 |
| HGNC ID | 5950 |
| Aliases | CD316, EWI-2, PGRL, KCT-4 |
Description
IGSF8 (Immunoglobulin Superfamily Member 8) encodes a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The protein contains four immunoglobulin-like domains and is involved in cell adhesion, immune modulation, and tumor suppression. It interacts with tetraspanins (e.g., CD9, CD81) and integrins, influencing cell migration and signaling. IGSF8 is widely expressed in hematopoietic cells, epithelial tissues, and the brain, and its downregulation is associated with cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Reduced IGSF8 expression correlates with increased invasion and metastasis; loss of IGSF8 promotes epithelial-mesenchymal transition (EMT). | PMID: 22952446 |
| Melanoma | IGSF8 downregulation enhances melanoma cell migration and invasion; acts as a metastasis suppressor. | PMID: 20010872 |
| Prostate cancer | Low IGSF8 expression associated with aggressive disease and poor prognosis. | PMID: 23327922 |
| Ovarian cancer | IGSF8 loss linked to increased tumor growth and peritoneal dissemination. | PMID: 25242044 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 28.5 | High |
| Spleen | 25.3 | High |
| Lung | 18.7 | Medium |
| Brain (cerebellum) | 15.2 | Medium |
| Heart | 12.1 | Medium |
| Liver | 6.8 | Low |
| Pancreas | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.3 | Embryonic kidney; high expression |
| HeLa | 18.9 | Cervical carcinoma; moderate expression |
| MCF-7 | 12.5 | Breast cancer; moderate expression |
| A549 | 9.7 | Lung carcinoma; low expression |
| K562 | 8.2 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% (gnomAD) | Unknown; rare variant in population databases |
| c.1543G>A (p.Gly515Ser) | Missense | <0.01% (gnomAD) | Unknown; rare variant |
| c.1865_1866insA (p.Glu622Glufs*2) | Frameshift | <0.01% (COSMIC) | Predicted loss-of-function; observed in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertion (p.Glu622Glufs*2) leads to premature truncation and likely loss of protein function.
Gain of Function (GOF)
No documented gain-of-function mutations in IGSF8.
Dominant Negative (DN)
No evidence of dominant-negative effects for IGSF8 mutations.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • immune response (GO:0006955) |
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) |
Pathways
• Tetraspanin-enriched microdomains (TEMs)
• Integrin signaling pathway
• Cell adhesion molecules (CAMs)
Protein Summary
IGSF8 is a 65-70 kDa type I transmembrane glycoprotein with four extracellular immunoglobulin-like domains. It forms complexes with tetraspanins (CD9, CD81) and integrins, modulating cell adhesion, migration, and signaling. The protein is expressed on immune cells, epithelial cells, and neurons. Downregulation of IGSF8 is observed in multiple cancers and is associated with increased metastatic potential, suggesting a tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGSF8 Knockout HEK293 Cell Line | EDJ-KQ10507 | Human | 93185 | Details Get a Quote |
| IGSF8 Knockout A-549 Cell Line | EDJ-KQ39238 | Human | 93185 | Details Get a Quote |
| IGSF8 Knockout HCT 116 Cell Line | EDJ-KQ39240 | Human | 93185 | Details Get a Quote |
| IGSF8 Knockout HeLa Cell Line | EDJ-KQ39241 | Human | 93185 | Details Get a Quote |
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