Home > Gene Browser > ITGA2B

ITGA2B

Synonyms
BDPLT16, BDPLT2, CD41, CD41B, GP2B, GPIIb, GT, GT1, GTA, HPA3, PPP1R93
External resources
Summary
This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
15
Likely pathogenic
2
VUS
1,955
Likely benign
461
Benign
305

Patient phenotypes

Proportions of phenotypes among 17 patients carring pathogenic or likely pathogenic variants on ITGA2B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.2%
Abnormality of the musculoskeletal system
23.5%
Abnormality of the eye
17.6%
Abnormality of head or neck
11.8%
Growth abnormality
11.8%
Abnormality of the cardiovascular system
5.9%
Abnormality of the digestive system
5.9%
Abnormality of the ear
5.9%
Abnormality of the endocrine system
5.9%
Abnormality of the genitourinary system
5.9%
Abnormality of the integument
5.9%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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