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Gene

CASK

calcium/calmodulin dependent serine protein kinase

Summary

Cytogenetic location
Xp11.4
Coordinates
Chromosome X: 41,514,934–41,923,554 (GRCh38)
Exons
27 exons across 408.6 kb
Protein
926 amino acids
Also known as
LIN2, CAGH39, FGS4
Previous symbols
TNRC8
MANE Select transcript
ENST00000378163.7NM_001367721.1
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

    • Intellectual Disability

      • One of 233 genes linked to it

        • ClinGen rates the link definitive
        • 4 GenCC submitters rate it definitive or strong

    How CASK is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome X, with a bracket where CASK sits. CASK and 5 genes near it on chromosome X, from 41,106,313 to 42,332,175.Chromosome XXp11.4p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2841.2 Mb41.4 Mb41.6 Mb41.8 Mb42 Mb42.2 MbUSP9X: 41,085,346–41,236,579, forward strandUSP9XDDX3X: 41,333,348–41,364,472, forward strandDDX3XNYX: 41,445,383–41,475,710, forward strandNYXCASK: 41,514,934–41,923,554, reverse strandCASKGPR34: 41,688,968–41,699,620, forward strandGPR34GPR82: 41,724,175–41,730,130, forward strandGPR82Diagram of CASK: 27 exons on the reverse strand of chromosome XExon 27: 3 known disease-causing sitesExon 26: 4 known disease-causing sitesExon 25: 3 known disease-causing sitesExon 24: 2 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 22: 7 known disease-causing sitesExon 21: 9 known disease-causing sitesExon 20: 3 known disease-causing sitesExon 18: 1 known disease-causing siteExon 17: 4 known disease-causing sitesExon 16: 1 known disease-causing siteExon 15: 4 known disease-causing sitesExon 12: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 9: 4 known disease-causing sitesExon 8: 8 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 27: 41,514,934–41,520,596, 5,663 basesExon 26: 41,523,951–41,524,034, 84 basesExon 25: 41,531,007–41,531,209, 203 basesExon 24: 41,534,706–41,534,786, 81 basesExon 23: 41,534,893–41,534,973, 81 basesExon 22: 41,542,691–41,542,806, 116 basesExon 21: 41,553,719–41,553,915, 197 basesExon 20: 41,555,600–41,555,635, 36 basesExon 19: 41,557,032–41,557,100, 69 basesExon 18: 41,559,779–41,559,847, 69 basesExon 17: 41,561,559–41,561,644, 86 basesExon 16: 41,569,668–41,569,746, 79 basesExon 15: 41,578,340–41,578,528, 189 basesExon 14: 41,586,907–41,586,987, 81 basesExon 13: 41,589,515–41,589,592, 78 basesExon 12: 41,609,904–41,610,025, 122 basesExon 11: 41,622,617–41,622,634, 18 basesExon 10: 41,626,604–41,626,703, 100 basesExon 9: 41,636,578–41,636,661, 84 basesExon 8: 41,660,439–41,660,561, 123 basesExon 7: 41,665,277–41,665,452, 176 basesExon 6: 41,671,428–41,671,530, 103 basesExon 5: 41,739,384–41,739,456, 73 basesExon 4: 41,745,524–41,745,601, 78 basesExon 3: 41,787,178–41,787,283, 106 basesExon 2: 41,853,115–41,853,227, 113 basesExon 1: 41,922,930–41,923,554, 625 bases2725201510515′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 8.8 kb of the gene's 408.6 kb; 2,781 of those bases code for the protein.

    How a genome test reads CASK

    110

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

    None of them falls in a region short reads find hard.

    A whole genome covers all 408.6 kb of CASK, introns included, not only the 8.8 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.). CASK gene: calcium/calmodulin dependent serine protein kinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/cask

    Vancouver

    Dante Labs. CASK gene: calcium/calmodulin dependent serine protein kinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cask

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