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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ITGB2
integrin subunit beta 2
Chromosome 21 · 21q22.3
NCBI Gene: 3689Ensembl: ENSG00000160255.19HGNC: HGNC:6155UniProt: A0A494C0X7
566PubMed Papers
21Diseases
3Drugs
84Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
integrin alphaL-beta2 complexplasma membranecell adhesion mediated by integrincell-cell adhesion mediated by integrinleukocyte adhesion deficiency 1Leukocyte adhesion deficiency type Ileukocyte adhesion deficiencypsoriasis
✦AI Summary

ITGB2 encodes the β2 integrin subunit (CD18), a critical component of leukocyte adhesion molecules essential for immune cell function and tissue infiltration. ITGB2 forms heterodimeric complexes with multiple α-subunits (ITGAL, ITGAM, ITGAX, ITGAD) to serve as receptors for intercellular adhesion molecules (ICAM-1, ICAM-2, ICAM-3) and other ligands including complement fragment iC3b and fibrinogen. These integrin complexes mediate leukocyte adhesion to endothelial cells and facilitate transmigration of neutrophils, T cells, and other immune cells 123. ITGB2 signaling activates JAK/STAT and PI3K/AKT pathways to regulate immune cell activation, natural killer cell cytotoxicity, and macrophage function 45. Pathologically, ITGB2 mutations cause leukocyte adhesion deficiency type 1 (LAD-I), characterized by severe immunodeficiency and recurrent infections 6. Beyond immune function, ITGB2 expression is dysregulated in multiple diseases including diabetic nephropathy, autoimmune disorders (SLE/Sjögren's syndrome), and cancers where it promotes tumor-associated macrophage infiltration and metabolic reprogramming 7895. Gene therapy restoring ITGB2 expression in LAD-I patients demonstrates clinical efficacy, with 100% HSCT-free survival and dramatic reduction in infection-related hospitalizations 6.

Sources cited
1
ITGAL:ITGB2 integrin is a receptor for ICAM1 and ICAM2
PMID: 1676048
2
ITGAL:ITGB2 integrin is a receptor for ICAM3 and contributes to apoptotic neutrophil phagocytosis
PMID: 23775590
3
ITGAL:ITGB2 functions as a receptor of ICAM1 at the immunological synapse to translate TCR engagement into graded adhesion
PMID: 38195629
4
ITGB2-containing integrins contribute to natural killer cell cytotoxicity
PMID: 15356110
5
ITGB2 is upregulated in diabetic nephropathy and serves as a diagnostic hub gene; expression correlates with renal function deterioration
PMID: 36911691
6
ITGB2 is a shared hub gene between SLE and pSS; ITGB2 signaling pathway is involved in both autoimmune diseases
PMID: 37614232
7
ITGB2 in cancer-associated fibroblasts activates PI3K/AKT/mTOR pathways to enhance glycolysis and promote oral squamous cell carcinoma proliferation
PMID: 33204328
8
ITGB2 activation in tumor-associated microglia stimulates JAK1/STAT3/IL-6 signaling to promote glioblastoma mesenchymal transition
PMID: 38554116
9
ITGB2 mutations cause leukocyte adhesion deficiency type 1; lentiviral gene therapy restoring ITGB2 expression achieves 100% HSCT-free survival and 84.9% reduction in serious infections
PMID: 40305711
Disease Associationsⓘ21
leukocyte adhesion deficiency 1Open Targets
0.81Strong
Leukocyte adhesion deficiency type IOpen Targets
0.65Moderate
leukocyte adhesion deficiencyOpen Targets
0.65Moderate
psoriasisOpen Targets
0.61Moderate
dry eye syndromeOpen Targets
0.58Moderate
genetic disorderOpen Targets
0.47Moderate
psoriasis vulgarisOpen Targets
0.37Weak
eye diseaseOpen Targets
0.37Weak
leukocyte adhesion deficiency 3Open Targets
0.34Weak
allergic conjunctivitisOpen Targets
0.28Weak
gangreneOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.25Weak
VertigoOpen Targets
0.18Weak
kidney diseaseOpen Targets
0.14Weak
ovarian dysfunctionOpen Targets
0.13Weak
rheumatoid arthritisOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
acute myeloid leukemiaOpen Targets
0.11Weak
type 1 diabetes mellitusOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Weak
Leukocyte adhesion deficiency 1UniProt
Pathogenic Variants84
NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter)Pathogenic
not provided|Leukocyte adhesion deficiency 1
★★☆☆2026→ Residue 188
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg)Pathogenic
not provided|Leukocyte adhesion deficiency 1
★★☆☆2025→ Residue 273
NM_000211.5(ITGB2):c.1602C>A (p.Cys534Ter)Pathogenic
not provided|Leukocyte adhesion deficiency 1
★★☆☆2025→ Residue 534
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser)Pathogenic
Leukocyte adhesion deficiency 1|Inborn genetic diseases|not provided
★★☆☆2025→ Residue 284
NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu)Pathogenic
Leukocyte adhesion deficiency 1
★★☆☆2025→ Residue 178
NM_000211.5(ITGB2):c.1264C>T (p.Gln422Ter)Pathogenic
Leukocyte adhesion deficiency 1|not provided
★★☆☆2025→ Residue 422
NM_000211.5(ITGB2):c.809C>T (p.Ala270Val)Likely pathogenic
Leukocyte adhesion deficiency 1|not provided
★★☆☆2025→ Residue 270
NM_000211.5(ITGB2):c.116del (p.Ser39fs)Pathogenic
ITGB2-related disorder|Leukocyte adhesion deficiency 1
★★☆☆2025→ Residue 39
NM_000211.5(ITGB2):c.186C>A (p.Cys62Ter)Pathogenic
Leukocyte adhesion deficiency 1
★★☆☆2024→ Residue 62
NM_000211.5(ITGB2):c.897+1G>APathogenic
Leukocyte adhesion deficiency 1|Glioma susceptibility 1|Lung cancer
★★☆☆2024
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys)Pathogenic
Leukocyte adhesion deficiency 1|ITGB2-related disorder|not provided
★★☆☆2024→ Residue 593
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter)Pathogenic
Leukocyte adhesion deficiency 1
★★☆☆2024→ Residue 734
NM_000211.5(ITGB2):c.120del (p.Gly42fs)Pathogenic
Leukocyte adhesion deficiency 1|Leukocyte adhesion deficiency 3|not provided
★★☆☆2024→ Residue 42
NM_000211.5(ITGB2):c.2070del (p.Asp690fs)Pathogenic
Inborn genetic diseases|Leukocyte adhesion deficiency 1
★★☆☆2023→ Residue 690
NM_000211.5(ITGB2):c.741+1G>APathogenic
not provided|Leukocyte adhesion deficiency 1
★★☆☆2023
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr)Pathogenic
not provided|Leukocyte adhesion deficiency 1
★★☆☆2023→ Residue 239
NM_000211.5(ITGB2):c.382G>A (p.Asp128Asn)Pathogenic
Leukocyte adhesion deficiency 1|not provided
★★☆☆2023→ Residue 128
NM_000211.5(ITGB2):c.295del (p.Ser99fs)Pathogenic
Leukocyte adhesion deficiency 1
★★☆☆2022→ Residue 99
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter)Pathogenic
Leukocyte adhesion deficiency 1
★★☆☆2021→ Residue 108
NM_000211.5(ITGB2):c.358del (p.Arg120fs)Pathogenic
Leukocyte adhesion deficiency 1
★☆☆☆2025→ Residue 120
View on ClinVar ↗
Drug Targets3
EFALIZUMABApproved
Integrin alpha-L/beta-2 (LFA-1) inhibitor
psoriasis vulgaris
LIFITEGRASTApproved
Integrin alpha-L/beta-2 (LFA-1) antagonist
ROVELIZUMABUNKNOWN
Integrin alpha-L/beta-2 (LFA-1) antagonist
cerebrovascular disorder
Related Genes
ICAM2Protein interaction100%SELEProtein interaction100%SELPProtein interaction100%ITGB3Protein interaction100%ITGB6Protein interaction100%ITGB5Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
50%
Heart
6%
Liver
6%
Brain
5%
Ovary
2%
Gene Interaction Network
Click a node to explore
ITGB2ICAM2SELESELPITGB3ITGB6ITGB5
PROTEIN STRUCTURE
Preparing viewer…
PDB2P26 · 1.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.52–0.81]
RankingsWhere ITGB2 stands among ~20K protein-coding genes
  • #423of 20,598
    Most Researched566 · top 5%
  • #508of 1,025
    FDA-Approved Drug Targets2
  • #884of 5,498
    Most Pathogenic Variants84 · top quartile
  • #6,793of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedITGB2
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Identification and validation of immune and oxidative stress-related diagnostic markers for diabetic nephropathy by WGCNA and machine learning.
PMID: 36911691
Front Immunol · 2023
1.00
2
Single-cell transcriptomic analyses reveal distinct immune cell contributions to epithelial barrier dysfunction in checkpoint inhibitor colitis.
PMID: 38724705
Nat Med · 2024
0.90
3
Targeting the tumor cell-intrinsic ITGB2 axis inhibits melanoma progression.
PMID: 41413567
Mol Cancer · 2025
0.80
4
Exploring the shared molecular mechanisms between systemic lupus erythematosus and primary Sjögren's syndrome based on integrated bioinformatics and single-cell RNA-seq analysis.
PMID: 37614232
Front Immunol · 2023
0.80
5
Integrated bioinformatics and validation reveal TMEM45A in systemic lupus erythematosus regulating atrial fibrosis in atrial fibrillation.
PMID: 40102753
Mol Med · 2025
0.78