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ITGA2

Synonyms
BR, CD49B, GPIa, HPA-5, VLA-2, VLAA2
External resources
Summary
This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants.

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
0
VUS
6,498
Likely benign
2,782
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on ITGA2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
35.7%
Abnormality of head or neck
28.6%
Abnormality of the musculoskeletal system
28.6%
Abnormality of the nervous system
28.6%
Abnormality of the cardiovascular system
21.4%
Abnormality of the eye
21.4%
Abnormality of the genitourinary system
21.4%
Abnormality of limbs
14.3%
Abnormality of the endocrine system
14.3%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of the immune system
7.1%
Abnormality of the integument
7.1%
Abnormality of the respiratory system
7.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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