HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ITGA8
integrin subunit alpha 8
Chromosome 10 Β· 10p13
NCBI Gene: 8516Ensembl: ENSG00000077943.9HGNC: HGNC:6144UniProt: B4DN28
53PubMed Papers
21Diseases
0Drugs
21Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mesodermal cell differentiationsubstrate adhesion-dependent cell spreadingkidney developmentendoplasmic reticulumrenal hypodysplasia/aplasia 1neurodegenerative diseaserenal agenesiscongenital anomaly of kidney and urinary tract
✦AI Summary

ITGA8 encodes integrin alpha-8, a cell adhesion receptor critical for organ development and tissue homeostasis. Functionally, ITGA8 forms heterodimeric complexes (primarily alpha-8/beta-1) that recognize RGD sequences in extracellular matrix proteins including fibronectin, tenascin, and osteopontin 1. During kidney development, ITGA8 regulates mesenchymal cell recruitment into epithelial structures, with nephronectin as its probable functional ligand 2. The protein also mediates neuronal cell-cell interactions and neurite outgrowth in sensory and motor neurons 1. Mechanistically, ITGA8 operates through integrin-mediated signaling pathways, particularly FAK/SRC/AKT/MAPK cascades 3. In vascular and bladder smooth muscle contexts, ITGA8-expressing cells exhibit YAP/TAZ-dependent control of myocardin expression, which regulates contractile gene programs 45. Clinically, ITGA8 dysregulation associates with multiple diseases. Mutations cause renal hypodysplasia/aplasia 2. Reduced ITGA8 expression correlates with poor prognosis in clear cell renal carcinoma and lung adenocarcinoma, where it suppresses tumor proliferation and migration 67. In lung cancer, ITGA8 enhances sensitivity to EGFR-tyrosine kinase inhibitors 3, while ITGA8 hypermethylation promotes bladder cancer progression 8. Thus, ITGA8 functions as a tumor suppressor whose loss or epigenetic silencing contributes to cancer pathogenesis.

Sources cited
1
ITGA8 is highly expressed during kidney and lung development; maps to chromosome 10p13; consists of 30 exons; contains functional RGD-binding domain
PMID: 15579315
2
ITGA8 expression is altered in congenital anomalies of kidney and urinary tract; poorly expressed in dysplastic and duplex kidneys
PMID: 39064873
3
Itga8-Cre model demonstrates vascular smooth muscle-specific expression; deletion causes aortic aneurysm development with impaired contractility
PMID: 37561588
4
ITGA8 expression in bladder smooth muscle; YAP/TAZ deletion via Itga8-Cre impairs bladder contractility through myocardin suppression
PMID: 37927241
5
ITGA8 knockdown enhances lung adenocarcinoma cell proliferation and migration; overexpression sensitizes cells to EGFR-TKIs via FAK/SRC/AKT/MAPK pathway inhibition
PMID: 39809840
6
ITGA8 expression lower in lung adenocarcinoma tissues; higher ITGA8 associated with better prognosis; negatively related to cancer stemness
PMID: 36911684
7
Low ITGA8 expression associated with poor overall survival and disease-free survival prognosis in clear cell renal carcinoma
PMID: 26198048
8
ITGA8 hypermethylation in bladder cancer facilitates cell proliferation and metastasis; demethylation inhibits tumor growth
PMID: 37119505
Disease Associationsβ“˜21
renal hypodysplasia/aplasia 1Open Targets
0.78Strong
neurodegenerative diseaseOpen Targets
0.50Moderate
renal agenesisOpen Targets
0.37Weak
congenital anomaly of kidney and urinary tractOpen Targets
0.37Weak
bilateral renal agenesisOpen Targets
0.37Weak
lobe attachmentOpen Targets
0.33Weak
alcohol drinkingOpen Targets
0.31Weak
hypertensionOpen Targets
0.29Weak
hypopituitarismOpen Targets
0.27Weak
tuberculosisOpen Targets
0.27Weak
SplenomegalyOpen Targets
0.27Weak
Parkinson diseaseOpen Targets
0.26Weak
glomerulonephritisOpen Targets
0.26Weak
placenta praeviaOpen Targets
0.25Weak
Genu valgumOpen Targets
0.25Weak
Genu varumOpen Targets
0.25Weak
genetic disorderOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.09Suggestive
facial morphologyOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
Renal hypodysplasia/aplasia 1UniProt
Pathogenic Variants21
NM_003638.3(ITGA8):c.2812C>T (p.Arg938Ter)Pathogenic
Renal hypodysplasia/aplasia 1
β˜…β˜…β˜†β˜†2026β†’ Residue 938
NM_003638.3(ITGA8):c.2982+2T>CPathogenic
Renal hypodysplasia/aplasia 1|not provided
β˜…β˜…β˜†β˜†2025
NM_003638.3(ITGA8):c.1445+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_003638.3(ITGA8):c.562C>T (p.Arg188Trp)Likely pathogenic
Renal hypodysplasia/aplasia 1
β˜…β˜†β˜†β˜†2025β†’ Residue 188
NM_003638.3(ITGA8):c.410del (p.Gly137fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 137
NM_003638.3(ITGA8):c.3003G>A (p.Trp1001Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1001
NM_003638.3(ITGA8):c.2683C>T (p.Arg895Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 895
NM_003638.3(ITGA8):c.467G>A (p.Trp156Ter)Pathogenic
Renal hypodysplasia/aplasia 1
β˜…β˜†β˜†β˜†2024β†’ Residue 156
NM_003638.3(ITGA8):c.1219G>A (p.Gly407Arg)Pathogenic
Renal hypodysplasia/aplasia 1|ITGA8-related disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 407
NM_003638.3(ITGA8):c.360dup (p.Val121fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 121
NM_003638.3(ITGA8):c.1970+1G>ALikely pathogenic
Renal hypodysplasia/aplasia 1
β˜…β˜†β˜†β˜†2024
NM_003638.3(ITGA8):c.2118_2118+3delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_003638.3(ITGA8):c.2804dup (p.Val936fs)Pathogenic
Renal hypodysplasia/aplasia 1
β˜…β˜†β˜†β˜†2022β†’ Residue 936
NM_003638.3(ITGA8):c.2626C>T (p.Gln876Ter)Likely pathogenic
Renal hypodysplasia/aplasia 1
β˜…β˜†β˜†β˜†2021β†’ Residue 876
NM_003638.3(ITGA8):c.1123dup (p.Gln375fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 375
NM_003638.3(ITGA8):c.722C>A (p.Ser241Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 241
NM_003638.3(ITGA8):c.2174dup (p.Cys726fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 726
NM_003638.3(ITGA8):c.158del (p.Lys53fs)Likely pathogenic
Renal hypodysplasia/aplasia 1
β˜…β˜†β˜†β˜†β†’ Residue 53
NM_003638.3(ITGA8):c.1764+1G>ALikely pathogenic
Renal hypodysplasia/aplasia 1
β˜…β˜†β˜†β˜†
NM_003638.3(ITGA8):c.1780C>T (p.Arg594Ter)Pathogenic
ITGA8-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 594
View on ClinVar β†—
Related Genes
FREM1Protein interaction99%SPP1Protein interaction99%FRAS1Protein interaction98%PTK2Protein interaction96%FREM2Protein interaction94%TNNProtein interaction92%
Tissue Expression6 tissues
Lung
100%
Heart
40%
Ovary
17%
Brain
11%
Liver
3%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
ITGA8FREM1SPP1FRAS1PTK2FREM2TNN
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P53708
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.80LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.52–0.80]
RankingsWhere ITGA8 stands among ~20K protein-coding genes
  • #8,443of 20,598
    Most Researched53
  • #2,155of 5,498
    Most Pathogenic Variants21
  • #6,671of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedITGA8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Vascular smooth muscle-specific YAP/TAZ deletion triggers aneurysm development in mouse aorta.
PMID: 37561588
JCI Insight Β· 2023
1.00
2
Genome-wide CRISPR-Cas9 screening identifies ITGA8 responsible for abivertinib sensitivity in lung adenocarcinoma.
PMID: 39809840
Acta Pharmacol Sin Β· 2025
0.90
3
LINC01798/miR-17-5p axis regulates ITGA8 and causes changes in tumor microenvironment and stemness in lung adenocarcinoma.
PMID: 36911684
Front Immunol Β· 2023
0.80
4
Genomic organization and sequence variation of the human integrin subunit alpha8 gene (ITGA8).
PMID: 15579315
Matrix Biol Β· 2004
0.70
5
Itga8-Cre-mediated deletion of YAP and TAZ impairs bladder contractility with minimal inflammation and chondrogenic differentiation.
PMID: 37927241
Am J Physiol Cell Physiol Β· 2023
0.60