SIK3 Chromosome 11
SIK family kinase 3
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What This Gene Does
Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in positive regulation of TORC1 signaling; positive regulation of TORC2 signaling; and protein phosphorylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
SIK family kinases
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000160584
Associated Conditions (2)
Spondyloepimetaphyseal dysplasia
Krakow type
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2540619128 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Krakow type, Spondyloepimetaphyseal dysplasia |
| RS1565460853 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Krakow type, Spondyloepimetaphyseal dysplasia |