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KCNU1

Synonyms
KCNMC1, KCa5, KCa5.1, Kcnma3, Slo3
External resources
Summary
This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. 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
24
Likely pathogenic
0
VUS
15,404
Likely benign
2,552
Benign
0

Patient Phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on KCNU1 gene are displayed below. The following symptoms were found in patients with a variant in KCNU1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
34.8%
Abnormality of the digestive system
21.7%
Abnormality of the immune system
17.4%
Abnormality of the musculoskeletal system
17.4%
Abnormality of blood and blood forming tissues
13%
Abnormality of head or neck
13%
Abnormality of the cardiovascular system
13%
Abnormality of the genitourinary system
13%
Abnormality of the nervous system
13%
Abnormality of metabolism homeostasis
8.7%
Abnormality of the integument
8.7%
Abnormality of the respiratory system
8.7%
Neoplasm
8.7%
Abnormality of limbs
4.3%
Abnormality of the ear
4.3%
Constitutional symptom
4.3%
Growth abnormality
4.3%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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