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UMOD

Synonyms
ADMCKD2, ADTKD1, FJHN, HNFJ, HNFJ1, MCKD2, THGP, THP
External resources
Summary
The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants.

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
14
Likely pathogenic
9
VUS
1,182
Likely benign
11,752
Benign
3,527

Patient phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on UMOD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.8%
Abnormality of head or neck
30.4%
Abnormality of the integument
26.1%
Abnormality of the cardiovascular system
21.7%
Abnormality of the eye
21.7%
Abnormality of the musculoskeletal system
21.7%
Growth abnormality
21.7%
Abnormality of the genitourinary system
13%
Abnormality of the immune system
8.7%
Neoplasm
8.7%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of limbs
4.3%
Abnormality of the breast
4.3%
Abnormality of the ear
4.3%
Abnormality of the respiratory system
4.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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