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Gene

PDE6C

phosphodiesterase 6C

Summary

Cytogenetic location
10q23.33
Coordinates
Chromosome 10: 93,612,537–93,666,010 (GRCh38)
Exons
22 exons across 53.5 kb
Protein
858 amino acids
Inheritance
Autosomal recessive
Also known as
PDEA2, ACHM5, COD4
MANE Select transcript
ENST00000371447.4NM_006204.4
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

  • Achromatopsia

    • PDE6C-Related RetinopathyAutosomal recessive

      A cone disorder caused by changes in both copies of PDE6C.

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

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PDE6C is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where PDE6C sits. PDE6C and 8 genes near it on chromosome 10, from 93,139,274 to 94,139,273.Chromosome 1010q23.33p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.393.2 Mb93.4 Mb93.6 Mb93.8 Mb94 MbMYOF: 93,306,429–93,482,334, reverse strandMYOFCEP55: 93,496,577–93,529,096, forward strandCEP55FFAR4: 93,566,653–93,605,840, forward strandFFAR4RBP4: 93,590,170–93,603,110, reverse strandRBP4PDE6C: 93,612,537–93,666,010, forward strandPDE6CFRA10AC1: 93,667,126–93,703,294, reverse strandFRA10AC1LGI1: 93,757,840–93,806,272, forward strandLGI1SLC35G1: 93,893,918–93,956,062, forward strandSLC35G1PLCE1: 93,993,807–94,332,823, forward strandPLCE1Diagram of PDE6C: 22 exons on the forward strand of chromosome 10Exon 1: 5 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 4 known disease-causing sitesExon 10: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 13: 3 known disease-causing sitesExon 14: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 17: 3 known disease-causing sitesExon 18: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 20: 2 known disease-causing sitesExon 1: 93,612,537–93,613,205, 669 basesExon 2: 93,620,632–93,620,784, 153 basesExon 3: 93,620,891–93,620,980, 90 basesExon 4: 93,621,932–93,622,072, 141 basesExon 5: 93,625,575–93,625,649, 75 basesExon 6: 93,626,640–93,626,704, 65 basesExon 7: 93,626,805–93,626,871, 67 basesExon 8: 93,629,258–93,629,305, 48 basesExon 9: 93,634,758–93,634,907, 150 basesExon 10: 93,635,497–93,635,640, 144 basesExon 11: 93,636,995–93,637,063, 69 basesExon 12: 93,640,070–93,640,216, 147 basesExon 13: 93,640,450–93,640,557, 108 basesExon 14: 93,640,920–93,641,029, 110 basesExon 15: 93,645,960–93,646,047, 88 basesExon 16: 93,655,760–93,655,860, 101 basesExon 17: 93,658,901–93,659,008, 108 basesExon 18: 93,659,104–93,659,167, 64 basesExon 19: 93,662,059–93,662,133, 75 basesExon 20: 93,662,560–93,662,643, 84 basesExon 21: 93,663,028–93,663,178, 151 basesExon 22: 93,665,360–93,666,010, 651 bases15101520225′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 3.4 kb of the gene's 53.5 kb; 2,577 of those bases code for the protein.

How a genome test reads PDE6C

34

positions in PDE6C 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 53.5 kb of PDE6C, introns included, not only the 3.4 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.). PDE6C gene: phosphodiesterase 6C. Retrieved 16 October 2026, from https://dantelabs.com/genes/pde6c

Vancouver

Dante Labs. PDE6C gene: phosphodiesterase 6C [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pde6c

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