ITGAE (Integrin Subunit Alpha E)
Gene encoding the alpha E integrin subunit, a key component of the αEβ7 integrin receptor involved in T-cell retention and immune surveillance.
Gene Information Card
| Symbol | ITGAE |
|---|---|
| Full Name | integrin subunit alpha E |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 3682 ncbi.nlm.nih.gov/gene/3682 |
| Ensembl ID | ENSG00000183486 |
| UniProt ID | P38570 |
| OMIM ID | 604682 |
| HGNC ID | 6149 |
| Aliases | CD103, HUMINAE, integrin alpha-E |
Description
ITGAE (integrin subunit alpha E) encodes the alpha E integrin chain, which heterodimerizes with integrin beta 7 (ITGB7) to form the αEβ7 integrin receptor. This receptor is predominantly expressed on intraepithelial lymphocytes (IELs) and mediates cell adhesion to E-cadherin on epithelial cells, playing a critical role in T-cell retention, mucosal immunity, and immune surveillance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory Bowel Disease (IBD) | Altered αEβ7-mediated T-cell adhesion and retention in gut epithelium may contribute to chronic inflammation. | PMID: 25957469 |
| Celiac Disease | Increased ITGAE expression on intraepithelial lymphocytes is associated with disease activity. | PMID: 23594762 |
| Cutaneous T-cell Lymphoma (CTCL) | CD103 (ITGAE) expression on malignant T-cells correlates with epidermotropism. | PMID: 19075190 |
| Graft-versus-Host Disease (GVHD) | αEβ7 integrin facilitates T-cell infiltration into epithelial tissues, exacerbating GVHD. | PMID: 26966091 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small Intestine | 45.2 | High |
| Colon | 38.7 | High |
| Lung | 12.3 | Medium |
| Skin | 8.9 | Medium |
| Spleen | 6.1 | Low |
| Thymus | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 0.8 | Low expression; may require activation |
| MOLT-4 (T-cell lymphoblast) | 1.2 | Low baseline expression |
| HCT-116 (colorectal carcinoma) | 0.3 | Very low; not typically expressed in epithelial lines |
| A549 (lung carcinoma) | 0.1 | Negligible expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.567_568del (p.Leu190fs) | Frameshift | <0.01% | Predicted loss of function; not characterized in disease |
| c.2345T>C (p.Leu782Pro) | Missense | <0.01% | Unknown; no clinical association reported |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations in ITGAE have been reported in human disease; however, frameshift or nonsense variants are predicted to cause loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations have been described for ITGAE.
Dominant Negative (DN)
No dominant-negative mutations have been reported for ITGAE.
View complete mutation data：
Gene Ontology (GO)
| • GO:0007155 – cell adhesion | • GO:0005178 – integrin binding |
| • GO:0005886 – plasma membrane | • GO:0009986 – cell surface |
| • GO:0033627 – integrin-mediated signaling pathway | • GO:0043235 – receptor complex |
Pathways
• Integrin signaling pathway (KEGG: hsa04510)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
• αEβ7 integrin pathway (Reactome: R-HSA-202733)
Protein Summary
The integrin alpha E (ITGAE) protein, also known as CD103, is a 150 kDa type I transmembrane glycoprotein. It contains an I-domain responsible for ligand binding, a thigh domain, and two calf domains. ITGAE non-covalently associates with integrin beta 7 to form the αEβ7 receptor, which binds E-cadherin on epithelial cells. This interaction is essential for the retention of CD8+ and CD4+ T-cells in mucosal and cutaneous epithelial layers, contributing to local immune responses and barrier integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGAE Knockout HEK293 Cell Line | EDC07569 | Human | 3682 | Details Get a Quote |
| ITGAE Knockout A-549 Cell Line | EDJ-KQ18522 | Human | 3682 | Details Get a Quote |
| ITGAE Knockout HCT 116 Cell Line | EDJ-KQ19845 | Human | 3682 | Details Get a Quote |
| ITGAE Knockout HeLa Cell Line | EDJ-KQ19846 | Human | 3682 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
