Home > Gene Browser > UPK3A

UPK3A

Synonyms
UP3A, UPIII, UPIIIA, UPK3
External resources
Summary
This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
5
Likely pathogenic
627
VUS
2,953
Likely benign
3,508
Benign
0

Patient phenotypes

Proportions of phenotypes among 631 patients carrying pathogenic or likely pathogenic variants on UPK3A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32%
Abnormality of the cardiovascular system
28.8%
Abnormality of the musculoskeletal system
22%
Abnormality of head or neck
17.1%
Abnormality of the ear
13.8%
Abnormality of the eye
13.5%
Growth abnormality
10.8%
Abnormality of the genitourinary system
9.2%
Abnormality of the integument
6.3%
Abnormality of limbs
6.2%
Abnormality of the digestive system
4.9%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of the endocrine system
3.6%
Abnormality of the immune system
3.3%
Abnormality of the respiratory system
3.2%
Abnormality of prenatal development or birth
2.4%
Neoplasm
1.3%
Constitutional symptom
0.6%
Abnormal cellular phenotype
0.5%
Abnormality of the voice
0.5%
Abnormality of the breast
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes