SIK3

Chr 11q23.3

SIK family kinase 3

Aliases:: FLJ12240, L19, KIAA0999, QSK
MANE:: ENST00000445177.6

OMIM: 614776 ↗NCBI: 23387 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SIK3 · Q9Y2K2

v62025-08-01

Predicted Aligned Error matrix for SIK3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

50.7/ 100

Low

1,321 residues

Confidence breakdown

Very high(≥ 90)21%
Confident(70–90)5%
Low(50–70)8%
Very low(< 50)67%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
0.58
hypothyroidism
0.34
Alzheimer disease
0.30
Parkinson disease
0.30
neurodegenerative disease
0.30
multiple sclerosis
0.30
lysosomal storage disease
0.30
hypertensive disorder
0.25
urinary system disorder
0.24
ocular hypotension
0.21

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Serine/threonine-protein kinase SIK3

Positive regulator of mTOR signaling that functions by triggering the degradation of DEPTOR, an mTOR inhibitor. Involved in the dynamic regulation of mTOR signaling in chondrocyte differentiation during skeletogenesis (PubMed:30232230). Negatively regulates cAMP signaling pathway possibly by acting on CRTC2/TORC2 and CRTC3/TORC3 (Probable). Prevents HDAC4 translocation to the nucleus (By similarity)