Skip to content
Use your HSA or FSA funds

Gene

SIK1

salt inducible kinase 1

Summary

Cytogenetic location
21q22.3
Coordinates
Chromosome 21: 43,414,483–43,427,131 (GRCh38)
Exons
14 exons across 12.6 kb
Protein
783 amino acids
Also known as
msk
Previous symbols
SNF1LK
MANE Select transcript
ENST00000270162.8NM_173354.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • 3 GenCC submitters rate it definitive or strong

    How SIK1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 21, with a bracket where SIK1 sits. SIK1 and 12 genes near it on chromosome 21, from 42,920,807 to 43,920,806.Chromosome 2121q22.3p13p12p11.2p11.1q11.1q11.2q21.1q21.2q21.3q22.11q22.12q22.13q22.2q22.343 Mb43.2 Mb43.4 Mb43.6 Mb43.8 MbERVH48-1: 42,916,803–42,925,630, reverse strandERVH48-1PKNOX1: 42,974,328–43,034,494, forward strandPKNOX1CBS: 43,050,900–43,076,943, reverse strandCBSU2AF1: 43,092,956–43,107,605, reverse strandU2AF1CRYAA: 43,169,008–43,172,810, forward strandCRYAASIK1: 43,414,483–43,427,131, reverse strandSIK1HSF2BP: 43,529,186–43,659,524, reverse strandHSF2BPH2BC12L: 43,565,182–43,565,648, forward strandH2BC12LRRP1B: 43,659,542–43,696,080, forward strandRRP1BPDXK: 43,719,061–43,762,307, forward strandPDXKCSTB: 43,772,511–43,776,608, reverse strandCSTBRRP1: 43,789,513–43,821,500, forward strandRRP1AGPAT3: 43,865,081–43,987,592, forward strandAGPAT3Diagram of SIK1: 14 exons on the reverse strand of chromosome 21Exon 13: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 14: 43,414,483–43,417,117, 2,635 basesExon 13: 43,417,543–43,417,774, 232 basesExon 12: 43,418,260–43,418,541, 282 basesExon 11: 43,419,021–43,419,237, 217 basesExon 10: 43,419,353–43,419,478, 126 basesExon 9: 43,419,859–43,420,005, 147 basesExon 8: 43,420,234–43,420,457, 224 basesExon 7: 43,421,010–43,421,133, 124 basesExon 6: 43,421,243–43,421,367, 125 basesExon 5: 43,421,638–43,421,799, 162 basesExon 4: 43,421,974–43,422,037, 64 basesExon 3: 43,425,407–43,425,523, 117 basesExon 2: 43,426,023–43,426,192, 170 basesExon 1: 43,427,010–43,427,131, 122 bases141210864215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 4.7 kb of the gene's 12.6 kb; 2,352 of those bases code for the protein.

    How a genome test reads SIK1

    2

    positions in SIK1 where ClinVar classes a change as pathogenic or likely pathogenic

    2 of them (100%) fall in regions short reads find hard.

    • Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
    • Segmental duplications (2 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

    A whole genome covers all 12.6 kb of SIK1, introns included, not only the 4.7 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). SIK1 gene: salt inducible kinase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/sik1

    Vancouver

    Dante Labs. SIK1 gene: salt inducible kinase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sik1

    One test. A lifetime of answers.

    From $449Free shipping · Results in 6–8 weeks

    Get my Genome Test