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ITGA4

Synonyms
CD49D, IA4
External resources
Summary
The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. 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
9
Likely pathogenic
0
VUS
3,898
Likely benign
409
Benign
0

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on ITGA4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
37.5%
Abnormality of the genitourinary system
25%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of head or neck
12.5%
Abnormality of limbs
12.5%
Abnormality of the breast
12.5%
Abnormality of the ear
12.5%
Abnormality of the eye
12.5%
Abnormality of the immune system
12.5%
Abnormality of the integument
12.5%
Abnormality of the musculoskeletal system
12.5%
Abnormality of the respiratory system
12.5%
Growth abnormality
12.5%
Neoplasm
12.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the nervous system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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