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ITGAE

Synonyms
CD103, HUMINAE
External resources
Summary
Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation.

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
22
Likely pathogenic
0
VUS
9,233
Likely benign
1,005
Benign
0

Patient phenotypes

Proportions of phenotypes among 21 patients carring pathogenic or likely pathogenic variants on ITGAE gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
38.1%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
23.8%
Abnormality of blood and blood-forming tissues
19%
Abnormality of the cardiovascular system
19%
Abnormality of the musculoskeletal system
19%
Abnormality of the ear
14.3%
Abnormality of the immune system
14.3%
Abnormality of the digestive system
9.5%
Abnormality of the genitourinary system
9.5%
Abnormality of the integument
9.5%
Abnormality of the respiratory system
9.5%
Abnormality of the endocrine system
4.8%
Growth abnormality
4.8%
Neoplasm
4.8%
Abnormal cellular phenotype
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 thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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