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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ITGB4
integrin subunit beta 4
Chromosome 17 · 17q25.1
NCBI Gene: 3691Ensembl: ENSG00000132470.15HGNC: HGNC:6158UniProt: B7ZLD8
320PubMed Papers
22Diseases
0Drugs
158Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
insulin-like growth factor I bindingneuregulin bindingG protein-coupled receptor bindinghemidesmosome assemblyjunctional epidermolysis bullosa with pyloric atresiaJunctional epidermolysis bullosa - pyloric atresiaepidermolysis bullosa, junctional 5A, intermediateGeneralized junctional epidermolysis bullosa, non-Herlitz type
✦AI Summary

ITGB4 (integrin subunit beta 4) is a critical structural component of hemidesmosomes in epithelial cells, functioning as part of the integrin α6/β4 heterodimer that serves as a laminin receptor 1. This integrin mediates cell-matrix adhesion and plays essential roles in regulating keratinocyte polarity and motility [UniProt annotation]. ITGB4 also functions as a signaling receptor, binding growth factors including neuregulin-1, IGF1, and IGF2 to facilitate their respective signaling pathways [UniProt annotation]. Mechanistically, ITGB4 maintains epithelial barrier function through hemidesmosomal assembly 1. Loss of ITGB4 in airway epithelial cells disrupts this barrier and triggers the SHP2/JNK/c-Jun/FGF2 signaling pathway, leading to epithelial-mesenchymal trophic unit (EMTU) activation 1. ITGB4 also regulates endothelial cell senescence through the mTORC2/AKT/p53 pathway via direct interaction with FLRT2 2. Clinically, biallelic ITGB4 mutations cause junctional epidermolysis bullosa with severe skin fragility 3. Beyond monogenic diseases, ITGB4 expression is elevated in multiple cancer contexts, including head and neck squamous cell carcinoma where it predicts EGFR therapy response and correlates with invasion and tumor budding 4. ITGB4 upregulation also contributes to acquired resistance in lung cancer through AKT-mTOR bypass signaling 5, and marks a clonogenic progenitor population in lung organoids 6.

Sources cited
1
ITGB4 maintains airway epithelial barrier function; its deficiency disrupts barrier integrity and activates SHP2/JNK/FGF2 signaling in airway remodeling
PMID: 36243221
2
FLRT2 directly associates with ITGB4 and promotes its phosphorylation to prevent endothelial cell senescence through mTORC2/AKT/p53 pathway
PMID: 38587072
3
Biallelic ITGB4 mutations cause junctional epidermolysis bullosa, a severe genetic blistering disorder
PMID: 36287101
4
ITGB4 is upregulated in HNSCC during EGFR-mediated EMT, correlates with tumor invasion/budding, and predicts cetuximab response in metastatic patients
PMID: 36076232
5
ITGB4 overexpression promotes sotorasib resistance in KRAS G12C lung cancer through AKT-mTOR bypass signaling
PMID: 37831779
6
ITGA6+ITGB4+ mitotic cells mark a distinct clonogenic progenitor population in human distal lung basal cell organoids
PMID: 33238290
7
ITGB4 and CD24 enable enrichment of human and murine ectocervical stem cells in normal and precancerous organoids
PMID: 40057497
Disease Associationsⓘ22
junctional epidermolysis bullosa with pyloric atresiaOpen Targets
0.83Strong
Junctional epidermolysis bullosa - pyloric atresiaOpen Targets
0.82Strong
epidermolysis bullosa, junctional 5A, intermediateOpen Targets
0.68Moderate
Generalized junctional epidermolysis bullosa, non-Herlitz typeOpen Targets
0.61Moderate
junctional epidermolysis bullosa, non-Herlitz typeOpen Targets
0.60Moderate
epidermolysis bullosa simplex 1C, localizedOpen Targets
0.54Moderate
Localized epidermolysis bullosa simplexOpen Targets
0.54Moderate
junctional epidermolysis bullosaOpen Targets
0.50Moderate
generalized junctional epidermolysis bullosa non-Herlitz typeOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.40Weak
aplasia cutis congenitaOpen Targets
0.38Weak
epidermolysis bullosa simplexOpen Targets
0.37Weak
Epidermolysis bullosa simplex with pyloric atresiaOpen Targets
0.37Weak
Junctional epidermolysis bullosa, Herlitz typeOpen Targets
0.37Weak
localized junctional epidermolysis bullosa, non-Herlitz typeOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.34Weak
Parkinson diseaseOpen Targets
0.33Weak
lysosomal storage diseaseOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.33Weak
ocular hypertensionOpen Targets
0.29Weak
Epidermolysis bullosa, junctional 5A, intermediateUniProt
Epidermolysis bullosa, junctional 5B, with pyloric atresiaUniProt
Pathogenic Variants158
NM_000213.5(ITGB4):c.794dup (p.Ala266fs)Pathogenic
Junctional epidermolysis bullosa with pyloric atresia|not provided|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia
★★☆☆2025→ Residue 266
NM_000213.5(ITGB4):c.2550+1G>APathogenic
Junctional epidermolysis bullosa with pyloric atresia|not provided
★★☆☆2025
NM_000213.5(ITGB4):c.1660C>T (p.Arg554Ter)Pathogenic
Junctional epidermolysis bullosa with pyloric atresia|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia|not provided
★★☆☆2025→ Residue 554
NM_000213.5(ITGB4):c.1860+1G>ALikely pathogenic
not provided
★★☆☆2025
NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His)Pathogenic
Junctional epidermolysis bullosa with pyloric atresia|Junctional epidermolysis bullosa
★★☆☆2025→ Residue 1225
NM_000213.5(ITGB4):c.2254+1G>TPathogenic
not provided|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia|Cervical cancer
★★☆☆2025
NM_000213.5(ITGB4):c.600dup (p.Phe201fs)Pathogenic
not provided|Epidermolysis bullosa, junctional 5A, intermediate|Junctional epidermolysis bullosa with pyloric atresia
★★☆☆2024→ Residue 201
NM_000213.5(ITGB4):c.1135C>T (p.Arg379Ter)Pathogenic
Abnormality of the skin|not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 379
NM_000213.5(ITGB4):c.1860G>A (p.Ala620=)Pathogenic
not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 620
NM_000213.5(ITGB4):c.4355dup (p.Ser1454fs)Pathogenic
not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 1454
NM_000213.5(ITGB4):c.754C>T (p.Arg252Cys)Pathogenic
Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia|not provided
★★☆☆2024→ Residue 252
NM_000213.5(ITGB4):c.5257C>T (p.Gln1753Ter)Pathogenic
not provided|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia
★★☆☆2024→ Residue 1753
NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp)Pathogenic
Junctional epidermolysis bullosa with pyloric atresia|not provided|Junctional epidermolysis bullosa|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia
★★☆☆2024→ Residue 1281
NM_000213.5(ITGB4):c.5058_5064del (p.Ala1687fs)Pathogenic
not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 1687
NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp)Pathogenic
Junctional epidermolysis bullosa with pyloric atresia|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia
★★☆☆2024→ Residue 333
NM_000213.5(ITGB4):c.614del (p.Asn205fs)Pathogenic
not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 205
NM_000213.5(ITGB4):c.3793+1G>APathogenic
Junctional epidermolysis bullosa with pyloric atresia|not provided
★★☆☆2024
NM_000213.5(ITGB4):c.1614del (p.Glu537_Tyr538insTer)Pathogenic
not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 537
NM_000213.5(ITGB4):c.658del (p.Leu220fs)Pathogenic
not provided|Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate
★★☆☆2024→ Residue 220
NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs)Pathogenic
Junctional epidermolysis bullosa with pyloric atresia|not provided|Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia
★★☆☆2024→ Residue 1109
View on ClinVar ↗
Related Genes
PLECProtein interaction100%LAMB3Protein interaction98%LAMC2Protein interaction97%PTK2Protein interaction96%CD151Protein interaction96%ITGA5Protein interaction95%
Tissue Expression6 tissues
Brain
100%
Heart
72%
Lung
64%
Bone Marrow
39%
Ovary
38%
Liver
21%
Gene Interaction Network
Click a node to explore
ITGB4PLECLAMB3LAMC2PTK2CD151ITGA5
PROTEIN STRUCTURE
Preparing viewer…
PDB3FSO · 1.41 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.66–0.86]
RankingsWhere ITGB4 stands among ~20K protein-coding genes
  • #1,042of 20,598
    Most Researched320 · top 10%
  • #469of 5,498
    Most Pathogenic Variants158 · top 10%
  • #7,527of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedITGB4
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
A spatially resolved transcriptome landscape during thyroid cancer progression.
PMID: 40157360
Cell Rep Med · 2025
1.00
2
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
PMID: 36287101
J Eur Acad Dermatol Venereol · 2023
0.90
3
Acquired resistance to KRAS G12C small-molecule inhibitors via genetic/nongenetic mechanisms in lung cancer.
PMID: 37831779
Sci Adv · 2023
0.80
4
Progenitor identification and SARS-CoV-2 infection in human distal lung organoids.
PMID: 33238290
Nature · 2020
0.70
5
[Not Available].
PMID: 31082464
Cell Signal · 2019
0.64