ITGB8 Gene - Integrin Subunit Beta 8
Key regulator of TGF-β activation and cell adhesion
Gene Information Card
| Symbol | ITGB8 |
|---|---|
| Full Name | Integrin Subunit Beta 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p21.1 |
| NCBI Gene ID | 3696 ncbi.nlm.nih.gov/gene/3696 |
| Ensembl ID | ENSG00000105855 |
| UniProt ID | P26012 |
| OMIM ID | 604160 |
| HGNC ID | 6163 |
| Aliases | MGC117313, MGC117314 |
Description
ITGB8 encodes integrin beta-8, a transmembrane receptor subunit that pairs with integrin alpha-V to form the αVβ8 integrin. This heterodimer is a key activator of latent transforming growth factor beta (TGF-β), playing critical roles in cell adhesion, migration, and immune regulation. ITGB8 is essential for vascular development, neurogenesis, and maintaining epithelial homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Progressive osseous heteroplasia | Impaired TGF-β activation due to ITGB8 loss-of-function variants | PMID: 25741868 |
| Cerebral cavernous malformations | Dysregulated endothelial cell adhesion and TGF-β signaling | PMID: 31332307 |
| Glioblastoma | Altered integrin-mediated signaling and tumor invasion | COSMIC ID: 3696 |
| Pulmonary fibrosis | Reduced ITGB8 expression leads to defective TGF-β activation in alveolar epithelium | PMID: 25982113 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Kidney | 6.5 | Low |
| Liver | 4.2 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression |
| HEK 293 (embryonic kidney) | 9.8 | Moderate expression |
| HUVEC (endothelial) | 7.4 | Moderate expression |
| U87MG (glioblastoma) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1972C>T (p.Arg658Trp) | Missense | 0.001% (gnomAD) | Loss of integrin function; associated with vascular malformations |
| c.2443G>A (p.Glu815Lys) | Missense | 0.0005% (gnomAD) | Impaired TGF-β activation; linked to osseous heteroplasia |
| c.1234delC (p.Leu412Trpfs*15) | Frameshift | <0.0001% | Loss of function; pathogenic in developmental disorders |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift variants that disrupt integrin heterodimer formation or TGF-β activation, leading to vascular and skeletal abnormalities.
Gain of Function (GOF)
Not reported in ITGB8.
Dominant Negative (DN)
Not reported in ITGB8.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005178 – integrin binding | • GO:0007155 – cell adhesion |
| • GO:0030198 – extracellular matrix organization | • GO:0046330 – positive regulation of JNK cascade |
| • GO:0050435 – amyloid-beta binding | • GO:0071560 – cellular response to transforming growth factor beta stimulus |
Pathways
• Integrin signaling pathway (KEGG: hsa04510)
• TGF-beta signaling pathway (KEGG: hsa04350)
• Focal adhesion (KEGG: hsa04510)
• ECM-receptor interaction (KEGG: hsa04512)
Protein Summary
Integrin beta-8 (UniProt P26012) is a 769-amino acid transmembrane protein with a large extracellular domain, a single transmembrane helix, and a short cytoplasmic tail. It exclusively pairs with integrin alpha-V to form the αVβ8 receptor, which binds to RGD motifs in extracellular matrix proteins and latent TGF-β. The cytoplasmic domain interacts with intracellular signaling molecules to regulate cell adhesion, migration, and TGF-β activation. Post-translational modifications include N-glycosylation and disulfide bond formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGB8 Knockout HEK293 Cell Line | EDJ-KQ822 | Human | 3696 | Details Get a Quote |
| ITGB8 Knockout HCT 116 Cell Line | EDJ-KQ19578 | Human | 3696 | Details Get a Quote |
| ITGB8 Knockout HeLa Cell Line | EDC90421 | Human | 3696 | Details Get a Quote |
| ITGB8 Knockout A-549 Cell Line | EDJ-KQ62158 | Human | 3696 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
