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Gene

PDE6H

phosphodiesterase 6H

Summary

Cytogenetic location
12p12.3
Coordinates
Chromosome 12: 14,973,042–14,981,865 (GRCh38)
Exons
4 exons across 8.8 kb
Protein
83 amino acids
MANE Select transcript
ENST00000266395.3NM_006205.3
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

    • Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.

      • 3 GenCC submitters rate it definitive or strong

How PDE6H is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where PDE6H sits. PDE6H and 14 genes near it on chromosome 12, from 14,477,454 to 15,477,453.Chromosome 1212p12.3p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3314.6 Mb14.8 Mb15 Mb15.2 Mb15.4 MbATF7IP: 14,365,439–14,502,931, forward strandATF7IPPLBD1: 14,503,660–14,567,928, reverse strandPLBD1GUCY2C: 14,612,632–14,696,652, reverse strandGUCY2CH4C16: 14,767,999–14,771,131, reverse strandH4C16H2AJ: 14,774,405–14,778,002, forward strandH2AJWBP11: 14,783,595–14,803,510, reverse strandWBP11C12orf60: 14,802,864–14,906,586, forward strandC12orf60SMCO3: 14,804,065–14,814,189, reverse strandSMCO3ART4: 14,822,378–14,843,630, reverse strandART4MGP: 14,879,368–14,905,245, reverse strandMGPERP27: 14,912,600–14,938,557, reverse strandERP27ARHGDIB: 14,942,009–14,961,985, reverse strandARHGDIBPDE6H: 14,973,042–14,981,865, forward strandPDE6HRERG: 15,107,783–15,390,485, reverse strandRERGPTPRO: 15,322,257–15,602,175, forward strandPTPRODiagram of PDE6H: 4 exons on the forward strand of chromosome 12Exon 2: 1 known disease-causing siteExon 1: 14,973,042–14,973,086, 45 basesExon 2: 14,977,972–14,978,146, 175 basesExon 3: 14,979,179–14,979,219, 41 basesExon 4: 14,981,400–14,981,865, 466 bases12345′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 0.7 kb of the gene's 8.8 kb; 252 of those bases code for the protein.

How a genome test reads PDE6H

1

position in PDE6H 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 8.8 kb of PDE6H, introns included, not only the 0.7 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.). PDE6H gene: phosphodiesterase 6H. Retrieved 17 October 2026, from https://dantelabs.com/genes/pde6h

Vancouver

Dante Labs. PDE6H gene: phosphodiesterase 6H [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pde6h

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