ITGB7: Integrin Subunit Beta 7
Key mediator of lymphocyte homing and gut mucosal immunity
Gene Information Card
| Symbol | ITGB7 |
|---|---|
| Full Name | Integrin Subunit Beta 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3695 ncbi.nlm.nih.gov/gene/3695 |
| Ensembl ID | ENSG00000139626 |
| UniProt ID | P26010 |
| OMIM ID | 147559 |
| HGNC ID | 6160 |
| Aliases | M290, integrin beta-7 |
Description
ITGB7 encodes integrin beta-7, a transmembrane glycoprotein that forms heterodimers with integrin alpha-4 (ITGA4) or alpha-E (ITGAE). The alpha-4/beta-7 complex binds MAdCAM-1 and VCAM-1, mediating lymphocyte homing to gut-associated lymphoid tissue and sites of inflammation. The alpha-E/beta-7 complex binds E-cadherin, retaining lymphocytes in epithelial layers. ITGB7 is critical for mucosal immunity and is a therapeutic target in inflammatory bowel disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory Bowel Disease (IBD) | Dysregulated lymphocyte homing via alpha-4/beta-7-MAdCAM-1 interaction contributes to chronic gut inflammation | GWAS and functional studies; therapeutic targeting with vedolizumab |
| Crohn's Disease | Increased alpha-4/beta-7 expression on gut-homing T cells promotes mucosal infiltration | Clinical trials with anti-beta-7 antibodies |
| Ulcerative Colitis | Similar mechanism as Crohn's; vedolizumab approved for UC | FDA approval based on phase III trials |
| Celiac Disease | Upregulation of alpha-E/beta-7 on intraepithelial lymphocytes in response to gluten | Immunohistochemical studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small Intestine | 28.5 | High |
| Colon | 22.1 | High |
| Appendix | 19.8 | High |
| Spleen | 15.3 | Medium |
| Lymph Node | 12.7 | Medium |
| Blood | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.2 | High expression of alpha-4/beta-7 |
| Raji (Burkitt lymphoma) | 9.8 | Moderate expression |
| THP-1 (monocytic leukemia) | 6.3 | Low expression |
| Caco-2 (colorectal adenocarcinoma) | 4.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072G>A (p.Gly358Arg) | Missense | <0.01% | Unknown functional effect; rare population variant |
| c.1654C>T (p.Arg552Trp) | Missense | <0.01% | Predicted damaging; may affect integrin dimerization |
| c.1960_1961del (p.Val654fs) | Frameshift | <0.01% | Loss of function; truncation of cytoplasmic domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants leading to truncated protein or nonsense-mediated decay; rare in population databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ITGB7.
Dominant Negative (DN)
No dominant-negative mutations described; ITGB7 functions as part of heterodimer.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell adhesion molecules (CAMs) - KEGG hsa04514
• Integrin signaling pathway - Reactome R-HSA-354192
• Lymphocyte trafficking - Reactome R-HSA-202733
Protein Summary
Integrin beta-7 (UniProt P26010) is a 798-amino-acid type I transmembrane protein with a large extracellular domain containing von Willebrand factor type A domain, a transmembrane region, and a short cytoplasmic tail. It associates non-covalently with integrin alpha-4 or alpha-E to form functional receptors. The alpha-4/beta-7 heterodimer mediates lymphocyte rolling and firm adhesion to MAdCAM-1 on high endothelial venules of gut-associated lymphoid tissue. The alpha-E/beta-7 heterodimer binds E-cadherin on epithelial cells, anchoring intraepithelial lymphocytes. Post-translational modifications include N-glycosylation and disulfide bond formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGB7 Knockout HEK293 Cell Line | EDC07571 | Human | 3695 | Details Get a Quote |
| ITGB7 Knockout HeLa Cell Line | EDJ-KQ53682 | Human | 3695 | Details Get a Quote |
| ITGB7 Knockout A-549 Cell Line | EDJ-KQ62157 | Human | 3695 | Details Get a Quote |
| ITGB7 Knockout HCT 116 Cell Line | EDJ-KQ70647 | Human | 3695 | Details Get a Quote |
