Tousled-Like Kinase 2

Alternative Names

  • TLK2
  • Protein Kinase, Ubiquitous-Alpha
  • PKU-Alpha
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OMIM Number

608439

NCBI Gene ID

11011

Uniprot ID

Q86UE8

Length

144,574 bases

No. of Exons

31

No. of isoforms

3

Protein Name

Serine/threonine-protein kinase tousled-like 2

Molecular Mass

87661 Da

Amino Acid Count

772

Genomic Location

chr17:62,470,907-62,615,480

Gene Map Locus
17q23.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001284333.1:c.1850C>TUnited Arab EmiratesNC_000017.11:g.62602105C>TPathogenicPathogenicMental Retardation, Autosomal Dominant 57NM_001284333.1:c.1850C>T; NP_001271262.1:p.Ser617Leu2082914686978817
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