Gene
RD3
RD3 regulator of GUCY2D
- HGNC 19689(opens in a new tab)
- Ensembl gene ENSG00000198570(opens in a new tab)
- NCBI Gene 343035(opens in a new tab)
Summary
- Cytogenetic location
- 1q32.3
- Coordinates
- Chromosome 1: 211,476,522–211,492,162 (GRCh38)
- Exons
- 3 exons across 15.6 kb
- Protein
- 195 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- LCA12
- Previous symbols
- C1orf36
- MANE Select transcript
- ENST00000680073.1NM_001164688.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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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 RD3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 3.5 kb of the gene's 15.6 kb; 588 of those bases code for the protein.
How a genome test reads RD3
10
positions in RD3 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 15.6 kb of RD3, introns included, not only the 3.5 kb of exons.
Traits linked to RD3
The Human Phenotype Ontology lists these as features of the rare conditions RD3 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). RD3 gene: RD3 regulator of GUCY2D. Retrieved 16 October 2026, from https://dantelabs.com/genes/rd3
Dante Labs. RD3 gene: RD3 regulator of GUCY2D [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rd3
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