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SESN3

Synonyms
SEST3
External resources
Summary
This gene encodes a member of the sestrin family of stress-induced proteins. The encoded protein reduces the levels of intracellular reactive oxygen species induced by activated Ras downstream of RAC-alpha serine/threonine-protein kinase (Akt) and FoxO transcription factor. The protein is required for normal regulation of blood glucose, insulin resistance and plays a role in lipid storage in obesity. 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
8
Likely pathogenic
0
VUS
948
Likely benign
63
Benign
0

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on SESN3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the genitourinary system
37.5%
Abnormality of the musculoskeletal system
37.5%
Abnormality of the cardiovascular system
25%
Abnormality of the ear
25%
Abnormality of head or neck
12.5%
Abnormality of prenatal development or birth
12.5%
Abnormality of the digestive system
12.5%
Abnormality of the endocrine system
12.5%
Abnormality of the eye
12.5%
Abnormality of the integument
12.5%
Abnormality of the respiratory system
12.5%
Growth abnormality
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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