ITGA8 Gene - Integrin Subunit Alpha 8
Key mediator of cell-matrix adhesion in kidney and nervous system development
Gene Information Card
| Symbol | ITGA8 |
|---|---|
| Full Name | Integrin Subunit Alpha 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p13 |
| NCBI Gene ID | 8516 ncbi.nlm.nih.gov/gene/8516 |
| Ensembl ID | ENSG00000106034 |
| UniProt ID | P53708 |
| OMIM ID | 604063 |
| HGNC ID | 6144 |
| Aliases | FLJ14466, integrin alpha-8 |
Description
ITGA8 encodes the alpha-8 subunit of integrin receptors, which mediate cell-cell and cell-extracellular matrix adhesion. This subunit pairs with beta-1 integrin to form the α8β1 integrin, a receptor for fibronectin, osteopontin, and tenascin-C. ITGA8 is critical for kidney morphogenesis, particularly in the development of the ureteric bud and collecting ducts, and plays roles in neuronal migration and synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal hypodysplasia/aplasia | Loss-of-function mutations in ITGA8 disrupt α8β1 integrin-mediated adhesion in the developing kidney, leading to impaired ureteric bud branching and nephron formation. | ClinVar, OMIM |
| Congenital anomalies of the kidney and urinary tract (CAKUT) | Homozygous or compound heterozygous ITGA8 variants cause severe renal agenesis or hypodysplasia, often with associated vesicoureteral reflux. | ClinVar, OMIM |
| Nephronophthisis-like phenotype | Biallelic ITGA8 mutations have been reported in patients with progressive kidney disease and tubular basement membrane abnormalities. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Cerebral cortex | 5.1 | Low |
| Lung | 4.7 | Low |
| Testis | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| A-431 | 6.8 | Epidermoid carcinoma |
| HepG2 | 4.1 | Hepatocellular carcinoma |
| K-562 | 2.3 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53*) | Nonsense | Rare | Loss of function; associated with renal agenesis |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Impaired integrin heterodimerization |
| c.2045_2046del (p.Leu682Argfs*12) | Frameshift | Rare | Premature truncation; loss of ligand binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that lead to truncated or absent ITGA8 protein, causing severe renal developmental defects.
Gain of Function (GOF)
No gain-of-function mutations reported for ITGA8.
Dominant Negative (DN)
No dominant-negative mutations described; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • integrin-mediated signaling pathway (GO:0007229) |
| • cell-matrix adhesion (GO:0007160) | • receptor activity (GO:0004872) |
| • extracellular matrix binding (GO:0050840) |
Pathways
• Integrin signaling pathway (KEGG: hsa04510)
• ECM-receptor interaction (KEGG: hsa04512)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
Integrin alpha-8 (ITGA8) is a 1051-amino-acid transmembrane protein that forms a heterodimer with integrin beta-1 (ITGB1). The α8β1 integrin binds to RGD-containing ligands such as fibronectin, osteopontin, and tenascin-C. It is essential for kidney development, where it mediates interactions between the ureteric bud and metanephric mesenchyme. In the nervous system, ITGA8 contributes to neurite outgrowth and synaptic organization. Loss of ITGA8 function leads to severe renal malformations.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGA8 Knockout HEK293 Cell Line | EDJ-KQ257 | Human | 8516 | Details Get a Quote |
| ITGA8 Knockout HeLa Cell Line | EDJ-KQ54927 | Human | 8516 | Details Get a Quote |
| ITGA8 Knockout A-549 Cell Line | EDJ-KQ63413 | Human | 8516 | Details Get a Quote |
| ITGA8 Knockout HCT 116 Cell Line | EDJ-KQ71877 | Human | 8516 | Details Get a Quote |
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