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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ITGB8
integrin subunit beta 8
Chromosome 7 · 7p21.1
NCBI Gene: 3696Ensembl: ENSG00000105855.11HGNC: HGNC:6163UniProt: P26012
78PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeintegrin alphav-beta8 complexextracellular matrix protein bindingvasculogenesisasthmaAbnormality of the skeletal systemprostate carcinomarespiratory system disease
✦AI Summary

ITGB8 encodes integrin beta-8, a subunit that forms the heterodimer αvβ8 (ITGAV:ITGB8) with specific roles in immune regulation and neurodevelopment. As an RGD-binding integrin, αvβ8 functions as a receptor for fibronectin and mediates TGFβ activation through interaction with latency-associated peptide on cell surfaces 1. In immune contexts, ITGB8 is essential for peripheral regulatory T cell (Treg) differentiation: loss of ITGB8 in intestinal Thetis cells severely impairs pTreg generation and causes colitis 1. ITGB8 also functions in microglia homeostasis, where APOE4-mediated induction of ITGB8-TGFβ signaling impairs disease-associated microglia responses to Alzheimer's disease pathology by upregulating homeostatic checkpoints 2. In human brain development, ITGB8 is specifically upregulated in human radial glia and activates PI3K-AKT-mTOR signaling, contributing to human-specific cortical expansion 3. Genetically, ITGB8 variants are associated with inflammatory bowel disease susceptibility, with disease-risk alleles correlating with increased expression upon immune stimulation 4. Beyond immune regulation, ITGB8 expression supports vasculogenesis and placental blood vessel development. These findings establish ITGB8 as a critical integrator of TGFβ-mediated immune tolerance and neuroinflammatory responses relevant to multiple inflammatory and neurodegenerative diseases.

Sources cited
1
ITGB8 in Thetis cells is required for peripheral Treg cell generation and TGFβ activation; loss causes colitis
PMID: 36070798
2
APOE4-mediated ITGB8-TGFβ signaling impairs microglial response in Alzheimer's disease
PMID: 37749326
3
ITGB8 is upregulated in human radial glia and activates PI3K-AKT-mTOR signaling in human brain development
PMID: 30735633
4
ITGB8 variants are associated with inflammatory bowel disease susceptibility with disease-risk alleles increasing expression upon immune stimulation
PMID: 28067908
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
asthmaOpen Targets
0.52Moderate
Abnormality of the skeletal systemOpen Targets
0.50Moderate
prostate carcinomaOpen Targets
0.43Moderate
respiratory system diseaseOpen Targets
0.42Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.42Moderate
Hammer Toe SyndromeOpen Targets
0.41Moderate
allergic rhinitisOpen Targets
0.41Moderate
childhood onset asthmaOpen Targets
0.40Moderate
allergic diseaseOpen Targets
0.39Weak
deep vein thrombosisOpen Targets
0.36Weak
inflammatory bowel diseaseOpen Targets
0.34Weak
Varicose veinsOpen Targets
0.34Weak
ileostomyOpen Targets
0.33Weak
Abnormal thrombosisOpen Targets
0.32Weak
connective tissue diseaseOpen Targets
0.31Weak
musculoskeletal system diseaseOpen Targets
0.31Weak
chronic rhinosinusitisOpen Targets
0.31Weak
appendicitisOpen Targets
0.31Weak
disorder of appendixOpen Targets
0.31Weak
lower respiratory tract diseaseOpen Targets
0.30Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
ABITUZUMABPhase II
Integrin alpha-V/beta-5 inhibitor
colorectal cancer
Related Genes
TGFB3Protein interaction99%TGFB1Protein interaction98%LAMC2Protein interaction97%PTK2Protein interaction96%TGFB2Protein interaction96%LAMA3Protein interaction95%
Tissue Expression6 tissues
Brain
100%
Ovary
31%
Bone Marrow
21%
Heart
15%
Lung
7%
Liver
4%
Gene Interaction Network
Click a node to explore
ITGB8TGFB3TGFB1LAMC2PTK2TGFB2LAMA3
PROTEIN STRUCTURE
Preparing viewer…
PDB6OM1 · 2.66 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.21Tolerant
Observed/Expected LoF0.42 [0.29–0.61]
RankingsWhere ITGB8 stands among ~20K protein-coding genes
  • #6,081of 20,598
    Most Researched78
  • #4,280of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedITGB8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
PMID: 28067908
Nat Genet · 2017
1.00
2
Immune checkpoint TIM-3 regulates microglia and Alzheimer's disease.
PMID: 40205047
Nature · 2025
0.90
3
Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution.
PMID: 30735633
Cell · 2019
0.80
4
APOE4 impairs the microglial response in Alzheimer's disease by inducing TGFβ-mediated checkpoints.
PMID: 37749326
Nat Immunol · 2023
0.70
5
Immune dysfunction in Alzheimer disease.
PMID: 41315874
Nat Rev Neurosci · 2026
0.60