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TLK2

Synonyms
HsHPK, MRD57, PKU-ALPHA
External resources
Summary
This gene encodes a nuclear serine/threonine kinase that was first identified in Arabidopsis. The encoded protein is thought to function in the regulation of chromatin assembly in the S phase of the cell cycle by regulating the levels of a histone H3/H4 chaperone. This protein is associated with double-strand break repair of DNA damage caused by radiation. Pseudogenes of this gene are present on chromosomes 10 and 17. Alternate splicing 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
10
Likely pathogenic
0
VUS
2,640
Likely benign
4,521
Benign
3,782

Patient phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on TLK2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
70%
Abnormality of head or neck
50%
Growth abnormality
50%
Abnormality of the musculoskeletal system
30%
Abnormality of limbs
20%
Abnormality of the cardiovascular system
20%
Abnormality of the endocrine system
20%
Abnormality of the eye
20%
Abnormality of the integument
20%
Abnormality of the digestive system
10%
Abnormality of the immune system
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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