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UGT2B7

Synonyms
UDPGT 2B7, UDPGT 2B9, UDPGT2B7, UDPGTH2, UDPGTh-2, UGT2B9
External resources
Summary
The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. 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
12
Likely pathogenic
0
VUS
3,490
Likely benign
848
Benign
0

Patient Phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on UGT2B7 gene are displayed below. The following symptoms were found in patients with a variant in UGT2B7. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
41.7%
Abnormality of the nervous system
41.7%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
25%
Abnormality of the eye
25%
Abnormality of limbs
16.7%
Abnormality of the ear
16.7%
Growth abnormality
16.7%
Abnormality of metabolism homeostasis
8.3%
Abnormality of prenatal development or birth
8.3%
Abnormality of the digestive system
8.3%
Abnormality of the genitourinary system
8.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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