ITGB3 Chromosome 17
Integrin subunit beta 3
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What This Gene Does
The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Integrin beta subunits|Human platelet antigens"
Locus Type
gene with protein product
Location
17q21.32
Ensembl
ENSG00000259207
Associated Conditions (20)
Fetal and neonatal alloimmune thrombocytopenia
Glanzmann thrombasthenia 2
Abnormal platelet aggregation
Thrombocytopenia
Inborn genetic diseases
Bleeding disorder
platelet-type
24
Abnormal bleeding
Prolonged bleeding time
Platelet-type bleeding disorder 16
Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Myocardial infarction
susceptibility to
Macrothrombocytopenia
ITGB3-related disorder
Cervical cancer
Hyper-IgE recurrent infection syndrome 1
autosomal dominant
Key Variants
RS1555572829
association
Fetal and neonatal alloimmune thrombocytopenia, Fetal and neonatal alloimmune thrombocytopenia
Health Risk
RS1037047731
Conflicting classifications of pathogenicity
Glanzmann thrombasthenia 2, Glanzmann thrombasthenia 2
Health Risk
RS1598702827
Conflicting classifications of pathogenicity
Abnormal platelet aggregation, Thrombocytopenia, Abnormal platelet aggregation
Health Risk
RS2547623844
Conflicting classifications of pathogenicity
Glanzmann thrombasthenia 2, Glanzmann thrombasthenia 2
Health Risk
RS774678642
Conflicting classifications of pathogenicity
Inborn genetic diseases, Bleeding disorder, platelet-type
Health Risk
RS1057518838
Likely pathogenic
Abnormal bleeding, Prolonged bleeding time, Platelet-type bleeding disorder 16
Health Risk
RS1193381168
Likely pathogenic
Glanzmann thrombasthenia, Glanzmann thrombasthenia
Health Risk
RS1205019601
Likely pathogenic
Glanzmann thrombasthenia, Glanzmann thrombasthenia
Health Risk
RS121918445
Likely pathogenic
Glanzmann thrombasthenia, Glanzmann thrombasthenia 2, Glanzmann thrombasthenia
Health Risk
RS121918446
Likely pathogenic
Glanzmann thrombasthenia 2, Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
Health Risk
RS121918452
Likely pathogenic
Glanzmann thrombasthenia 2, Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
Health Risk
RS1255017270
Likely pathogenic
Glanzmann thrombasthenia, Glanzmann thrombasthenia
Health Risk
All Variants (170)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS746626039 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Myocardial infarction, susceptibility to |
| RS747534508 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia, Glanzmann thrombasthenia 2 |
| RS747621401 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS75354240 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS753932639 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS754250394 | Health Risk | Pathogenic | Glanzmann thrombasthenia 1, Glanzmann thrombasthenia, Glanzmann thrombasthenia 1 |
| RS75427428 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia 2, Bleeding disorder |
| RS758633284 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS763023732 | Health Risk | Pathogenic | — |
| RS768881769 | Health Risk | Pathogenic | — |
| RS777913442 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS77963874 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia 2, Bleeding disorder |
| RS780043425 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS780384800 | Health Risk | Pathogenic | Glanzmann thrombasthenia, ITGB3-related disorder, Glanzmann thrombasthenia 2 |
| RS780710721 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS79208797 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia 1, Glanzmann thrombasthenia 2 |
| RS887221055 | Health Risk | Pathogenic | Glanzmann thrombasthenia 1, Glanzmann thrombasthenia, Glanzmann thrombasthenia 1 |
| RS902952044 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS958609406 | Health Risk | Pathogenic | Glanzmann thrombasthenia, Myocardial infarction, susceptibility to |
| RS2547613531 | Health Risk | Pathogenic/Likely pathogenic | Glanzmann thrombasthenia 2, Glanzmann thrombasthenia 2 |