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NEK4

Synonyms
NRK2, STK2, pp12301
External resources
Summary
The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies.

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
24
Likely pathogenic
55
VUS
3,072
Likely benign
6,335
Benign
0

Patient phenotypes

Proportions of phenotypes among 78 patients carrying pathogenic or likely pathogenic variants on NEK4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
28.2%
Abnormality of the nervous system
28.2%
Abnormality of the musculoskeletal system
15.4%
Abnormality of the eye
14.1%
Abnormality of the ear
12.8%
Growth abnormality
12.8%
Abnormality of head or neck
11.5%
Abnormality of the genitourinary system
9%
Abnormality of the integument
6.4%
Abnormality of blood and blood-forming tissues
5.1%
Abnormality of the immune system
5.1%
Abnormality of the digestive system
3.8%
Abnormality of prenatal development or birth
2.6%
Abnormality of the endocrine system
2.6%
Neoplasm
2.6%
Abnormality of limbs
1.3%
Abnormality of the respiratory system
1.3%
Constitutional symptom
1.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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