ITGA7 Gene (Integrin Subunit Alpha 7): Function, Disease Associations, and Expression
A comprehensive overview of the ITGA7 gene, encoding the alpha 7 integrin subunit, including genomic context, protein function, expression patterns, and clinical significance.
Gene Information Card
| Symbol | ITGA7 |
|---|---|
| Full Name | Integrin Subunit Alpha 7 |
| Gene Type | protein coding |
| Chromosomal Location | 12q13.2 (GRCh38) |
| NCBI Gene ID | 3679 ncbi.nlm.nih.gov/gene/3679 |
| Ensembl ID | ENSG00000135424 |
| UniProt ID | Q13683 |
| OMIM ID | 604348 |
| HGNC ID | 6143 |
| Aliases | FLJ25220, integrin alpha-7 |
Description
The ITGA7 gene encodes the alpha 7 integrin subunit, which pairs with beta 1 integrin to form the alpha7beta1 integrin receptor. This receptor is predominantly expressed in skeletal and cardiac muscle and plays a critical role in muscle development, maintenance, and regeneration by mediating cell-matrix interactions. Mutations in ITGA7 are associated with congenital myopathy and other muscle disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital myopathy with fiber-type disproportion | Loss-of-function mutations lead to reduced or absent alpha7 integrin, impairing muscle fiber integrity and causing myopathic changes. | ClinVar, OMIM |
| Muscular dystrophy, congenital, with integrin alpha-7 deficiency | Homozygous or compound heterozygous mutations cause complete loss of alpha7 integrin, disrupting muscle cell adhesion and leading to progressive muscle weakness. | OMIM, PubMed |
| Myopathy, congenital, with respiratory failure | Mutations affecting the alpha7 integrin's ligand-binding domain compromise muscle membrane stability, contributing to respiratory muscle dysfunction. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | High (e.g., 100+ nTPM) | High |
| Heart | Moderate (e.g., 50-100 nTPM) | Moderate |
| Smooth Muscle | Low (e.g., <10 nTPM) | Low |
| Other tissues | Very low or not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | High | Differentiating myoblasts show high expression |
| Cardiomyocytes | Moderate | Present in cardiac muscle cells |
| Fibroblasts | Low | Low expression in non-muscle cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1766G>A (p.Arg589His) | Missense | Rare | Impairs ligand binding, associated with congenital myopathy |
| c.2332C>T (p.Arg778Ter) | Nonsense | Rare | Premature stop codon, loss of function |
| c.1570del (p.Leu524SerfsTer) | Frameshift | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ITGA7 mutations are loss-of-function, leading to reduced or absent alpha7 integrin, causing muscle weakness and myopathy.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ITGA7.
Dominant Negative (DN)
No dominant-negative effects documented; mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • integrin binding | • cell adhesion |
| • extracellular matrix organization | • muscle contraction |
| • integrin-mediated signaling pathway |
Pathways
• Integrin signaling pathway
• ECM-receptor interaction
• Focal adhesion
Protein Summary
The alpha7 integrin subunit is a type I transmembrane protein that forms a heterodimer with beta1 integrin. It is essential for maintaining muscle cell integrity by linking the extracellular matrix to the cytoskeleton. The protein contains an extracellular domain with a von Willebrand factor type A domain, a transmembrane domain, and a short cytoplasmic tail. It is highly expressed in skeletal and cardiac muscle and is involved in muscle development and regeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGA7 Knockout HEK293 Cell Line | EDJ-KQ814 | Human | 3679 | Details Get a Quote |
| ITGA7 Knockout A-549 Cell Line | EDJ-KQ19561 | Human | 3679 | Details Get a Quote |
| ITGA7 Knockout HCT 116 Cell Line | EDJ-KQ19562 | Human | 3679 | Details Get a Quote |
| ITGA7 Knockout HeLa Cell Line | EDJ-KQ19563 | Human | 3679 | Details Get a Quote |
