ITGA10 (Integrin Subunit Alpha 10): Structure, Function, and Clinical Significance
A comprehensive overview of the ITGA10 gene, its protein product, expression patterns, associated diseases, and molecular characteristics.
Gene Information Card
| Symbol | ITGA10 |
|---|---|
| Full Name | Integrin subunit alpha 10 |
| Gene Type | protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 8515 ncbi.nlm.nih.gov/gene/8515 |
| Ensembl ID | ENSG00000143149 |
| UniProt ID | Q9HAT2 |
| OMIM ID | 604042 |
| HGNC ID | 6137 |
| Aliases | integrin, alpha 10; PRO2455 |
Description
ITGA10 encodes the integrin alpha 10 subunit, which pairs with beta 1 integrin to form the alpha 10 beta 1 integrin receptor. This receptor is a major collagen-binding integrin expressed primarily in cartilage and skeletal muscle. It plays a critical role in chondrocyte differentiation, cartilage matrix homeostasis, and muscle development. Mutations in ITGA10 are associated with a rare form of chondrodysplasia with severe short stature and skeletal abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chondrodysplasia with severe short stature and skeletal abnormalities | Loss-of-function mutations in ITGA10 impair the alpha 10 beta 1 integrin-mediated chondrocyte adhesion to collagen, disrupting cartilage development and growth plate function. | ClinVar, OMIM (604042) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | Not available | High expression in chondrocytes |
| Skeletal muscle | Not available | Moderate expression |
| Other tissues | Not available | Low or no expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes | Not available | Primary site of expression |
| Myoblasts | Not available | Expressed during muscle development |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Premature stop codon leading to truncated protein and loss of function |
| c.456delA (p.Lys152SerfsTer5) | Frameshift | Rare | Frameshift leading to non-functional protein |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ITGA10 are pathogenic, causing chondrodysplasia with severe short stature.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects are known; the disorder is inherited in an autosomal recessive manner.
View complete mutation data：
Gene Ontology (GO)
| • collagen binding | • integrin binding |
| • cell adhesion | • extracellular matrix organization |
| • cell-matrix adhesion | • integrin-mediated signaling pathway |
| • chondrocyte differentiation |
Pathways
• Integrin signaling pathway
• ECM-receptor interaction
• Focal adhesion
Protein Summary
The integrin alpha 10 protein is a 1108-amino acid type I transmembrane protein that forms a heterodimer with beta 1 integrin. It contains an extracellular domain with a von Willebrand factor A domain that mediates collagen binding, a transmembrane domain, and a short cytoplasmic tail. The alpha 10 beta 1 integrin is a major collagen receptor on chondrocytes, essential for cell adhesion, proliferation, and survival. It also plays a role in muscle development and regeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGA10 Knockout HEK293 Cell Line | EDJ-KQ807 | Human | 8515 | Details Get a Quote |
| ITGA10 Knockout HCT 116 Cell Line | EDJ-KQ19546 | Human | 8515 | Details Get a Quote |
| ITGA10 Knockout HeLa Cell Line | EDJ-KQ54926 | Human | 8515 | Details Get a Quote |
| ITGA10 Knockout A-549 Cell Line | EDJ-KQ63412 | Human | 8515 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
