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 |
|---|---|---|---|
| RS137959302 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Inborn genetic diseases, Leukocyte adhesion deficiency 1 |
| RS138303556 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS138682103 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, ITGB2-related disorder, Leukocyte adhesion deficiency 1 |
| RS138703739 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS139840790 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS140767058 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS141780263 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS144590448 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, ITGB2-related disorder, Leukocyte adhesion deficiency 1 |
| RS145851783 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS147238010 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, ITGB2-related disorder, Leukocyte adhesion deficiency 1 |
| RS147248229 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS149483341 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS192197684 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS199665785 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS199735877 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS200134130 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, ITGB2-related disorder, Leukocyte adhesion deficiency 1 |
| RS200144784 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS200150384 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS200615045 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS201148219 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS202051683 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, ITGB2-related disorder, Leukocyte adhesion deficiency 1 |
| RS35013643 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS368629638 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, ITGB2-related disorder, Leukocyte adhesion deficiency 1 |
| RS369981986 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS371045998 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Inborn genetic diseases, Leukocyte adhesion deficiency 1 |
| RS371548080 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, ITGB2-related disorder, Leukocyte adhesion deficiency 1 |
| RS373452460 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS374471192 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS375743879 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS542698586 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS550553324 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Inborn genetic diseases, Leukocyte adhesion deficiency 1 |
| RS550704811 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS61737080 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS752901414 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS753452987 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Inborn genetic diseases, Leukocyte adhesion deficiency 1 |
| RS754762370 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS766106686 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS768833543 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS777889637 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Inborn genetic diseases, Leukocyte adhesion deficiency 1 |
| RS778278328 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Inborn genetic diseases, Leukocyte adhesion deficiency 1 |
| RS780089604 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS781696813 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS886057119 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS1064794297 | Health Risk | Likely pathogenic | — |
| RS1064794298 | Health Risk | Likely pathogenic | — |
| RS1293268696 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS147318988 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS1568879914 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS1601284455 | Health Risk | Likely pathogenic | — |
| RS200159456 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |