ITGB2 Chromosome 21
Integrin subunit beta 2
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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 |
|---|---|---|---|
| RS760990531 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS767284889 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS774228764 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS942375725 | Health Risk | Pathogenic | — |
| RS1131691763 | Health Risk | Pathogenic/Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS137852616 | Health Risk | Pathogenic/Likely pathogenic | Leukocyte adhesion deficiency 1, Inborn genetic diseases, Leukocyte adhesion deficiency 1 |
| RS137852618 | Health Risk | Pathogenic/Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS1464015799 | Health Risk | Pathogenic/Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS179363873 | Health Risk | Pathogenic/Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2084110970 | Health Risk | Pathogenic/Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 1 |
| RS2517152384 | Health Risk | Pathogenic/Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517165274 | Health Risk | Pathogenic/Likely pathogenic | ITGB2-related disorder, Leukocyte adhesion deficiency 1, ITGB2-related disorder |
| RS772471533 | Health Risk | Pathogenic/Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS778074755 | Health Risk | Pathogenic/Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |