Serine/Threonine Protein Kinase 36

Alternative Names

  • STK36
  • Fused, Drosophila, Homolog of
  • FU
  • KIAA1278
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OMIM Number

607652

NCBI Gene ID

27148

Uniprot ID

Q9NRP7

Length

30,692 bases

No. of Exons

30

No. of isoforms

2

Protein Name

Serine/threonine-protein kinase 36

Molecular Mass

143995 Da

Amino Acid Count

1315

Genomic Location

chr2:218,672,026-218,702,717

Gene Map Locus
2q35

Description

This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene 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_015690.5:c.2131T>CLebanonchr2:218693327Likely PathogenicNG_029739.1:g.26302T>C; NM_015690.5:c.2131T>C; NP_056505.2:p.Cys711Arg768560846
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