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Gene

PDE6G

phosphodiesterase 6G

Summary

Cytogenetic location
17q25.3
Coordinates
Chromosome 17: 81,650,459–81,656,542 (GRCh38)
Exons
4 exons across 6.1 kb
Protein
87 amino acids
Inheritance
Autosomal recessive
Also known as
RP57
Previous symbols
PDEG
MANE Select transcript
ENST00000331056.10NM_002602.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Retinitis Pigmentosa

    • PDE6G-Related RetinopathyAutosomal recessive

      A retinal dystrophy caused by changes in the PDE6G gene.

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

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 2 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 PDE6G is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where PDE6G sits. PDE6G and 43 genes near it on chromosome 17, from 81,153,501 to 82,153,500.Chromosome 1717q25.3p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.381.2 Mb81.4 Mb81.6 Mb81.8 Mb82 MbLMTK1: 81,110,487–81,166,228, reverse strandLMTK1PVALEF: 81,165,507–81,183,166, forward strandPVALEFCEP131: 81,189,583–81,223,014, reverse strandCEP131TEPSIN: 81,228,277–81,239,095, reverse strandTEPSINNDUFAF8: 81,239,305–81,241,310, forward strandNDUFAF8SLC38A10: 81,244,811–81,295,567, reverse strandSLC38A10BAHCC1: 81,395,450–81,466,331, forward strandBAHCC1ACTG1: 81,509,413–81,523,847, reverse strandACTG1FSCN2: 81,528,372–81,542,415, forward strandFSCN2FAAP100: 81,539,885–81,553,961, reverse strandFAAP100NPLOC4: 81,556,887–81,648,465, reverse strandTSPAN10: 81,637,171–81,648,754, forward strandTSPAN10PDE6G: 81,650,459–81,656,542, reverse strandPDE6GOXLD1: 81,665,033–81,666,635, reverse strandOXLD1CCDC137: 81,666,698–81,673,904, forward strandCCDC137ARL16: 81,681,160–81,683,797, reverse strandHGS: 81,683,326–81,703,138, forward strandMRPL12: 81,703,357–81,711,112, forward strand: 81,703,371–81,720,539, forward strandSLC25A10: 81,711,951–81,721,969, forward strandGCGR: 81,803,105–81,814,023, forward strandGCGRMCRIP1: 81,821,790–81,833,302, reverse strandMCRIP1PPP1R27: 81,833,488–81,835,056, reverse strandPPP1R27P4HB: 81,843,158–81,860,856, reverse strandP4HBARHGDIA: 81,867,719–81,871,378, reverse strandARHGDIAALYREF: 81,887,830–81,891,835, reverse strandALYREFANAPC11: 81,890,669–81,900,991, forward strandNPB: 81,900,745–81,902,905, forward strandNPBPCYT2: 81,900,958–81,911,507, reverse strandSIRT7: 81,911,939–81,921,323, reverse strandMAFG: 81,918,270–81,927,769, reverse strandPYCR1: 81,932,378–81,942,412, reverse strandPYCR1MYADML2: 81,939,645–81,947,233, reverse strandNOTUM: 81,952,507–81,963,328, reverse strandNOTUMASPSCR1: 81,976,807–82,018,698, forward strandASPSCR1CENPX: 82,018,590–82,024,107, reverse strandCENPXLRRC45: 82,023,269–82,031,153, forward strandLRRC45RAC3: 82,031,192–82,034,218, forward strandRAC3DCXR: 82,035,136–82,037,777, reverse strandRFNG: 82,047,902–82,051,871, reverse strandGPS1: 82,050,691–82,058,063, forward strandDUS1L: 82,057,506–82,066,206, reverse strandFASN: 82,076,900–82,098,294, reverse strandFASNCCDC57: 82,101,458–82,212,885, reverse strandCCDC57Diagram of PDE6G: 4 exons on the reverse strand of chromosome 17Exon 4: 1 known disease-causing siteExon 4: 81,650,459–81,651,150, 692 basesExon 3: 81,651,645–81,651,685, 41 basesExon 2: 81,653,160–81,653,364, 205 basesExon 1: 81,656,493–81,656,542, 50 bases43215′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 1 kb of the gene's 6.1 kb; 264 of those bases code for the protein.

How a genome test reads PDE6G

2

positions in PDE6G 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 6.1 kb of PDE6G, introns included, not only the 1 kb of exons.

Genes linked to the same conditions

Traits linked to PDE6G

The Human Phenotype Ontology lists these as features of the rare conditions PDE6G can cause. Each trait's page lists the other genes linked to it.

External links

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.). PDE6G gene: phosphodiesterase 6G. Retrieved 17 October 2026, from https://dantelabs.com/genes/pde6g

Vancouver

Dante Labs. PDE6G gene: phosphodiesterase 6G [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pde6g

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