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Gene

CAMK2D

calcium/calmodulin dependent protein kinase II delta

Summary

Cytogenetic location
4q26
Coordinates
Chromosome 4: 113,451,032–113,761,738 (GRCh38)
Exons
21 exons across 310.7 kb
Protein
533 amino acids
Inheritance
Autosomal dominant
Previous symbols
CAMKD
MANE Select transcript
ENST00000511664.6NM_001321571.2
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

  • Syndromic and Metabolic Cardiomyopathies

    • CAMK2D-Related Neurodevelopmental Disorder and Dilated CardiomyopathyAutosomal dominant

      A condition caused by changes in CAMK2D that combines learning and developmental difficulties with dilated cardiomyopathy.

      • ClinGen rates the link strong
      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How CAMK2D is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where CAMK2D sits. CAMK2D and 2 genes near it on chromosome 4, from 113,106,385 to 114,106,384.Chromosome 44q26p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2113.2 Mb113.4 Mb113.6 Mb113.8 Mb114 MbANK2: 112,818,032–113,384,237, forward strandANK2CAMK2D: 113,451,032–113,761,738, reverse strandCAMK2DARSJ: 113,900,282–113,979,728, reverse strandARSJDiagram of CAMK2D: 21 exons on the reverse strand of chromosome 4Exon 11: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 21: 113,451,032–113,454,515, 3,484 basesExon 20: 113,455,726–113,455,821, 96 basesExon 19: 113,457,335–113,457,563, 229 basesExon 18: 113,460,147–113,460,241, 95 basesExon 17: 113,465,529–113,465,604, 76 basesExon 16: 113,500,463–113,500,511, 49 basesExon 15: 113,502,936–113,502,977, 42 basesExon 14: 113,504,976–113,505,035, 60 basesExon 13: 113,509,638–113,509,675, 38 basesExon 12: 113,513,328–113,513,370, 43 basesExon 11: 113,513,830–113,513,913, 84 basesExon 10: 113,515,069–113,515,191, 123 basesExon 9: 113,517,563–113,517,657, 95 basesExon 8: 113,531,216–113,531,299, 84 basesExon 7: 113,537,341–113,537,443, 103 basesExon 6: 113,547,644–113,547,716, 73 basesExon 5: 113,552,031–113,552,096, 66 basesExon 4: 113,609,152–113,609,206, 55 basesExon 3: 113,661,713–113,661,772, 60 basesExon 2: 113,759,320–113,759,414, 95 basesExon 1: 113,761,004–113,761,738, 735 bases2115′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 5.8 kb of the gene's 310.7 kb; 1,602 of those bases code for the protein.

How a genome test reads CAMK2D

2

positions in CAMK2D 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 310.7 kb of CAMK2D, introns included, not only the 5.8 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.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CAMK2D gene: calcium/calmodulin dependent protein kinase II delta. Retrieved 17 October 2026, from https://dantelabs.com/genes/camk2d

Vancouver

Dante Labs. CAMK2D gene: calcium/calmodulin dependent protein kinase II delta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/camk2d

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