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SELE

Synonyms
CD62E, ELAM, ELAM1, ESEL, LECAM2
External resources
Summary
The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis.

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
32
Likely pathogenic
0
VUS
3,892
Likely benign
2,738
Benign
0

Patient Phenotypes

Proportions of phenotypes among 32 patients carrying pathogenic or likely pathogenic variants on SELE gene are displayed below. The following symptoms were found in patients with a variant in SELE. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.9%
Abnormality of the cardiovascular system
28.1%
Abnormality of the eye
25%
Growth abnormality
25%
Abnormality of head or neck
18.8%
Abnormality of the musculoskeletal system
18.8%
Abnormality of the ear
15.6%
Abnormality of metabolism homeostasis
12.5%
Abnormality of the genitourinary system
9.4%
Abnormality of the immune system
6.3%
Abnormality of limbs
3.1%
Abnormality of prenatal development or birth
3.1%
Abnormality of the digestive system
3.1%
Abnormality of the endocrine system
3.1%
Abnormality of the integument
3.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
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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