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UPK2

Synonyms
UP2, UPII
External resources
Summary
This gene encodes one of the proteins of the highly conserved urothelium-specific integral membrane proteins of the asymmetric unit membrane which forms urothelium apical plaques in mammals. The asymmetric unit membrane is believed to strengthen the urothelium by preventing cell rupture during bladder distention. The encoded protein is expressed in the peripheral blood of bladder cancer patients with transitional cell carcinomas.

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
42
Likely pathogenic
1
VUS
493
Likely benign
260
Benign
0

Patient phenotypes

Proportions of phenotypes among 42 patients carring pathogenic or likely pathogenic variants on UPK2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.5%
Abnormality of the musculoskeletal system
28.6%
Abnormality of the integument
23.8%
Abnormality of head or neck
21.4%
Abnormality of limbs
14.3%
Abnormality of the eye
14.3%
Growth abnormality
14.3%
Abnormality of the genitourinary system
11.9%
Abnormality of the cardiovascular system
9.5%
Abnormality of the immune system
7.1%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of the ear
4.8%
Abnormality of the respiratory system
4.8%
Abnormal cellular phenotype
2.4%
Abnormality of the digestive system
2.4%
Abnormality of the endocrine system
2.4%
Neoplasm
2.4%
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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