ITGB2 Chromosome 21
Integrin subunit beta 2
Upload your DNA to see your personal genotypes for variants in ITGB2.
What This Gene Does
This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
"CD molecules|Integrin beta subunits|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000160255
Associated Conditions (10)
Leukocyte adhesion deficiency 1
Inborn genetic diseases
ITGB2-related disorder
Leukocyte adhesion deficiency 3
Colon adenocarcinoma
Glioma susceptibility 1
Lung cancer
Thyroid cancer
nonmedullary
1
Key Variants
RS137959302
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 1, Inborn genetic diseases, Leukocyte adhesion deficiency 1
Health Risk
RS138303556
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
Health Risk
RS138682103
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 1, ITGB2-related disorder, Leukocyte adhesion deficiency 1
Health Risk
RS138703739
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
Health Risk
RS139840790
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
Health Risk
RS140767058
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
Health Risk
RS141780263
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
Health Risk
RS144590448
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 1, ITGB2-related disorder, Leukocyte adhesion deficiency 1
Health Risk
RS145851783
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
Health Risk
RS147238010
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 1, ITGB2-related disorder, Leukocyte adhesion deficiency 1
Health Risk
RS147248229
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
Health Risk
RS149483341
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
Health Risk
All Variants (114)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2083734400 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2083749716 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2146531776 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS2517122868 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517165576 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS483352814 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS755834578 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 1, Colon adenocarcinoma, Leukocyte adhesion deficiency 1 |
| RS1227331406 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS1230903176 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS1307126211 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS1349812924 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS137852609 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, ITGB2-related disorder, Leukocyte adhesion deficiency 1 |
| RS137852610 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS137852611 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS137852612 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS137852613 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS137852614 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS137852615 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS137852617 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS1466186480 | Health Risk | Pathogenic | Inborn genetic diseases, Leukocyte adhesion deficiency 1, Inborn genetic diseases |
| RS148877937 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS1568883795 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS1601302490 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS183204825 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS189250711 | Health Risk | Pathogenic | — |
| RS201752283 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Glioma susceptibility 1, Lung cancer |
| RS2083735130 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2146498117 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2146499719 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2146504324 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2146511363 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2146538658 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517088205 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517094156 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517115331 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517121897 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517129036 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Thyroid cancer, nonmedullary |
| RS2517138279 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517138391 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517153214 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS387906411 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS483352813 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS483352815 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS483352816 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS483352817 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS483352818 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS483352819 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS748574145 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS755600323 | Health Risk | Pathogenic | — |
| RS757352177 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |