ITGAX (CD11c) Gene: Integrin Subunit Alpha X
A key marker of dendritic cells and mediator of cell adhesion and immune responses, implicated in autoimmune and inflammatory diseases.
Gene Information Card
| Symbol | ITGAX |
|---|---|
| Full Name | Integrin Subunit Alpha X |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 3687 ncbi.nlm.nih.gov/gene/3687 |
| Ensembl ID | ENSG00000140678 |
| UniProt ID | P20702 |
| OMIM ID | 151510 |
| HGNC ID | 6152 |
| Aliases | CD11C, SLEB6 |
Description
ITGAX encodes the integrin alpha X chain (CD11c), which pairs with integrin beta 2 (ITGB2) to form the CD11c/CD18 heterodimer (also known as complement receptor type 4, CR4). This receptor is expressed predominantly on dendritic cells, monocytes, macrophages, and subsets of lymphocytes. It mediates cell adhesion, migration, and phagocytosis of complement-opsonized particles. ITGAX is involved in immune responses and has been linked to susceptibility to autoimmune diseases such as systemic lupus erythematosus and type 1 diabetes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic Lupus Erythematosus (SLE) | ITGAX variants may alter immune cell adhesion and signaling, contributing to autoimmune dysregulation. | GWAS and case-control studies (PMID: 21983797, 24068945) |
| Type 1 Diabetes | ITGAX polymorphisms are associated with increased risk, possibly via effects on dendritic cell function. | Association studies (PMID: 19430481, 20418489) |
| Inflammatory Bowel Disease (IBD) | ITGAX expression on intestinal dendritic cells may influence mucosal inflammation. | Expression studies (PMID: 21743470) |
| Atherosclerosis | CD11c+ dendritic cells accumulate in atherosclerotic plaques, suggesting a role in vascular inflammation. | Histological studies (PMID: 15105296) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood | High | High |
| Spleen | High | High |
| Lung | Medium | Medium |
| Bone Marrow | Medium | Medium |
| Liver | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Dendritic cells (immature) | High | Key marker |
| Monocytes | Medium | Variable |
| Macrophages | Medium | Activation-dependent |
| NK cells | Low | Subset-specific |
| B cells (activated) | Low | Inducible |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11574637 | SNP (intronic) | ~0.2 (minor allele frequency) | Associated with SLE risk |
| rs11150606 | SNP (intronic) | ~0.3 | Associated with type 1 diabetes |
| rs7193943 | SNP (intronic) | ~0.4 | Potential regulatory effect |
Mutation functional classification
Loss of Function (LOF)
Rare loss-of-function variants may impair immune cell adhesion and phagocytosis, but are not well characterized.
Gain of Function (GOF)
No clear gain-of-function mutations reported.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • integrin-mediated signaling pathway | • cell adhesion |
| • cell-matrix adhesion | • phagocytosis |
| • receptor-mediated endocytosis | • immune response |
| • cell surface receptor signaling pathway | • positive regulation of T cell proliferation |
Pathways
• Integrin signaling pathway
• Leukocyte transendothelial migration
• Fc gamma receptor-mediated phagocytosis
• Complement cascade
Protein Summary
The ITGAX protein (CD11c) is a type I transmembrane glycoprotein with an extracellular domain containing seven repeats and an I-domain that binds ligands such as iC3b, fibrinogen, and ICAM-1. It associates non-covalently with ITGB2 (CD18) to form a functional receptor. The cytoplasmic tail interacts with cytoskeletal proteins, facilitating cell migration and signaling. CD11c is widely used as a marker for dendritic cells and is involved in antigen presentation and immune regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGAX Knockout HEK293 Cell Line | EDJ-KQ4225 | Human | 3687 | Details Get a Quote |
| ITGAX Knockout HeLa Cell Line | EDJ-KQ53679 | Human | 3687 | Details Get a Quote |
| ITGAX Knockout A-549 Cell Line | EDJ-KQ62154 | Human | 3687 | Details Get a Quote |
| ITGAX Knockout HCT 116 Cell Line | EDJ-KQ70643 | Human | 3687 | Details Get a Quote |
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