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Gene

CNGB3

cyclic nucleotide gated channel subunit beta 3

Summary

Cytogenetic location
8q21.3
Coordinates
Chromosome 8: 86,574,179–86,743,634 (GRCh38)
Exons
18 exons across 169.5 kb
Protein
809 amino acids
Inheritance
Autosomal recessive
Previous symbols
ACHM3, ACHM1, RMCH
MANE Select transcript
ENST00000320005.6NM_019098.5
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

    • CNGB3-Related RetinopathyAutosomal recessive

      A cone disorder caused by changes in both copies of CNGB3, the most common cause of achromatopsia.

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

    • 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

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 CNGB3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where CNGB3 sits. CNGB3 and 5 genes near it on chromosome 8, from 86,158,907 to 87,158,906.Chromosome 88q21.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.386.2 Mb86.4 Mb86.6 Mb86.8 Mb87 MbSLC7A13: 86,214,063–86,321,146, reverse strandSLC7A13WWP1: 86,342,486–86,478,420, forward strandWWP1RMDN1: 86,467,055–86,514,357, reverse strandRMDN1CPNE3: 86,514,421–86,561,498, forward strandCPNE3CNGB3: 86,574,179–86,743,634, reverse strandCNGB3CNBD1: 86,866,407–87,615,219, forward strandCNBD1Diagram of CNGB3: 18 exons on the reverse strand of chromosome 8Exon 18: 9 known disease-causing sitesExon 17: 6 known disease-causing sitesExon 16: 9 known disease-causing sitesExon 15: 8 known disease-causing sitesExon 14: 5 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 12: 9 known disease-causing sitesExon 11: 17 known disease-causing sitesExon 10: 9 known disease-causing sitesExon 9: 7 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 6: 12 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 4: 9 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 1: 7 known disease-causing sitesExon 18: 86,574,179–86,576,130, 1,952 basesExon 17: 86,578,689–86,578,863, 175 basesExon 16: 86,579,106–86,579,252, 147 basesExon 15: 86,604,093–86,604,211, 119 basesExon 14: 86,611,588–86,611,671, 84 basesExon 13: 86,625,983–86,626,080, 98 basesExon 12: 86,628,919–86,629,078, 160 basesExon 11: 86,632,752–86,632,893, 142 basesExon 10: 86,643,751–86,643,873, 123 basesExon 9: 86,644,622–86,644,686, 65 basesExon 8: 86,647,801–86,647,887, 87 basesExon 7: 86,654,012–86,654,062, 51 basesExon 6: 86,666,925–86,667,133, 209 basesExon 5: 86,668,019–86,668,168, 150 basesExon 4: 86,670,944–86,671,098, 155 basesExon 3: 86,726,531–86,726,657, 127 basesExon 2: 86,739,655–86,739,736, 82 basesExon 1: 86,743,499–86,743,634, 136 bases1816141210864215′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 4.1 kb of the gene's 169.5 kb; 2,430 of those bases code for the protein.

How a genome test reads CNGB3

170

positions in CNGB3 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 169.5 kb of CNGB3, introns included, not only the 4.1 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.). CNGB3 gene: cyclic nucleotide gated channel subunit beta 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/cngb3

Vancouver

Dante Labs. CNGB3 gene: cyclic nucleotide gated channel subunit beta 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cngb3

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