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Gene

GUCY2D

guanylate cyclase 2D, retinal

Summary

Cytogenetic location
17p13.1
Coordinates
Chromosome 17: 8,002,615–8,020,342 (GRCh38)
Exons
20 exons across 17.7 kb
Protein
1,103 amino acids
Inheritance
Autosomal recessive
Also known as
retGC, RETGC-1, ROS-GC1, CYGD, LCA1, ROS-GC
Previous symbols
CORD6, LCA, GUC2D, GUC1A4
MANE Select transcript
ENST00000254854.5NM_000180.4
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 reports relevant to this gene

  • Congenital Stationary Night Blindness

    • A group of mostly non-progressive retinal conditions, including Oguchi disease, caused by changes in genes such as NYX, CACNA1F, TRPM1, GRM6, GPR179 and SAG, often with nystagmus or short-sightedness.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      A genetic diagnosis explains the symptoms, helps distinguish the condition from progressive retinal diseases and informs family counselling.

  • Leber Congenital Amaurosis & RPE65-Related Retinopathy

    • Leber Congenital AmaurosisAutosomal recessive

      A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.

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 GUCY2D 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 GUCY2D sits. GUCY2D and 50 genes near it on chromosome 17, from 7,511,479 to 8,511,478.Chromosome 1717p13.1p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.37.6 Mb7.8 Mb8 Mb8.2 Mb8.4 MbPOLR2A: 7,484,366–7,514,616, forward strandPOLR2ATNFSF12: 7,548,508–7,557,890, forward strandTNFSF12-TNFSF13: 7,549,099–7,561,601, forward strandTNFSF13: 7,558,251–7,561,660, forward strandSENP3: 7,561,867–7,571,969, forward strandSENP3-EIF4A1: 7,563,287–7,578,715, forward strandEIF4A1: 7,572,718–7,579,007, forward strandCD68: 7,579,380–7,582,515, forward strandMPDU1: 7,583,214–7,594,419, forward strandSOX15: 7,588,178–7,590,101, reverse strandSOX15FXR2: 7,591,230–7,614,916, reverse strandFXR2SHBG: 7,613,946–7,633,469, forward strandSHBGSAT2: 7,626,234–7,627,879, reverse strandSAT2ATP1B2: 7,646,627–7,657,771, forward strandATP1B2TP53: 7,661,779–7,687,546, reverse strandTP53WRAP53: 7,686,071–7,703,505, forward strandWRAP53EFNB3: 7,705,172–7,711,372, forward strandEFNB3DNAH2: 7,717,728–7,833,742, forward strandDNAH2KDM6B: 7,834,193–7,854,808, forward strandKDM6BTMEM88: 7,855,057–7,856,114, forward strandTMEM88NAA38: 7,856,681–7,885,238, reverse strandNAA38CYB5D1: 7,857,696–7,862,282, forward strandCYB5D1CHD3: 7,884,787–7,912,760, forward strandRNF227: 7,913,238–7,916,377, reverse strandKCNAB3: 7,920,956–7,929,856, reverse strandKCNAB3: 7,925,931–7,930,622, reverse strandTRAPPC1: 7,930,345–7,932,123, reverse strandTRAPPC1CNTROB: 7,932,101–7,949,953, forward strandCNTROBGUCY2D: 8,002,615–8,020,342, forward strandGUCY2DALOX15B: 8,039,011–8,049,134, forward strandALOX15BALOX12B: 8,068,594–8,087,716, reverse strandALOX12BALOXE3: 8,095,900–8,119,047, reverse strandALOXE3HES7: 8,120,592–8,124,114, reverse strandHES7PER1: 8,140,467–8,156,506, reverse strandPER1: 8,150,816–8,162,975, reverse strandVAMP2: 8,159,149–8,163,584, reverse strandVAMP2TMEM107: 8,172,440–8,176,408, reverse strandTMEM107BORCS6: 8,188,345–8,190,180, reverse strandAURKB: 8,204,335–8,210,638, reverse strandAURKBCTC1: 8,224,815–8,248,075, reverse strandCTC1PFAS: 8,247,618–8,271,150, forward strandPFASSLC25A35: 8,287,762–8,295,410, reverse strandSLC25A35RANGRF: 8,288,631–8,290,092, forward strandRANGRFARHGEF15: 8,310,222–8,323,203, forward strandARHGEF15ODF4: 8,339,840–8,346,048, forward strandODF4KRABD2: 8,356,902–8,376,738, reverse strandKRABD2: 8,368,638–8,383,187, reverse strandRPL26: 8,377,500–8,384,062, reverse strandRNF222: 8,390,702–8,397,827, reverse strandRNF222NDEL1: 8,408,528–8,501,107, forward strandNDEL1MYH10: 8,474,205–8,632,303, reverse strandMYH10Diagram of GUCY2D: 20 exons on the forward strand of chromosome 17Exon 2: 31 known disease-causing sitesExon 3: 16 known disease-causing sitesExon 4: 14 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 5 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 8 known disease-causing sitesExon 10: 8 known disease-causing sitesExon 11: 6 known disease-causing sitesExon 12: 11 known disease-causing sitesExon 13: 13 known disease-causing sitesExon 14: 12 known disease-causing sitesExon 15: 10 known disease-causing sitesExon 16: 9 known disease-causing sitesExon 17: 7 known disease-causing sitesExon 19: 1 known disease-causing siteExon 1: 8,002,615–8,002,734, 120 basesExon 2: 8,003,039–8,003,768, 730 basesExon 3: 8,003,852–8,004,156, 305 basesExon 4: 8,006,363–8,006,714, 352 basesExon 5: 8,007,060–8,007,144, 85 basesExon 6: 8,007,426–8,007,528, 103 basesExon 7: 8,007,931–8,008,032, 102 basesExon 8: 8,009,506–8,009,586, 81 basesExon 9: 8,012,144–8,012,350, 207 basesExon 10: 8,012,450–8,012,606, 157 basesExon 11: 8,013,103–8,013,252, 150 basesExon 12: 8,013,880–8,014,028, 149 basesExon 13: 8,014,601–8,014,764, 164 basesExon 14: 8,014,859–8,015,051, 193 basesExon 15: 8,015,328–8,015,502, 175 basesExon 16: 8,015,743–8,015,841, 99 basesExon 17: 8,015,927–8,016,021, 95 basesExon 18: 8,016,205–8,016,290, 86 basesExon 19: 8,016,443–8,016,554, 112 basesExon 20: 8,020,128–8,020,342, 215 bases124681012141618205′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 3.7 kb of the gene's 17.7 kb; 3,312 of those bases code for the protein.

How a genome test reads GUCY2D

183

positions in GUCY2D 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 17.7 kb of GUCY2D, introns included, not only the 3.7 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.). GUCY2D gene: guanylate cyclase 2D, retinal. Retrieved 17 October 2026, from https://dantelabs.com/genes/gucy2d

Vancouver

Dante Labs. GUCY2D gene: guanylate cyclase 2D, retinal [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gucy2d

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