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Gene

CNGB1

cyclic nucleotide gated channel subunit beta 1

Summary

Cytogenetic location
16q21
Coordinates
Chromosome 16: 57,882,340–57,971,128 (GRCh38)
Exons
33 exons across 88.8 kb
Protein
1,251 amino acids
Inheritance
Autosomal recessive
Also known as
RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45
Previous symbols
CNCG2, CNCG3L
MANE Select transcript
ENST00000251102.13NM_001297.5
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

  • Retinitis Pigmentosa

    • CNGB1-Related RetinopathyAutosomal recessive

      A retinal dystrophy caused by changes in the CNGB1 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 CNGB1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where CNGB1 sits. CNGB1 and 20 genes near it on chromosome 16, from 57,426,734 to 58,426,733.Chromosome 1616q21p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.357.6 Mb57.8 Mb58 Mb58.2 Mb58.4 MbCIAPIN1: 57,428,169–57,447,420, reverse strandCIAPIN1COQ9: 57,447,425–57,461,275, forward strandCOQ9POLR2C: 57,462,648–57,472,010, forward strandPOLR2CDOK4: 57,471,917–57,487,382, reverse strandDOK4CCDC102A: 57,511,805–57,537,163, reverse strandCCDC102AADGRG5: 57,528,585–57,591,681, forward strandADGRG5ADGRG1: 57,610,652–57,665,580, forward strandADGRG1ADGRG3: 57,668,106–57,689,378, forward strandADGRG3DRC7: 57,694,790–57,731,805, forward strandDRC7KATNB1: 57,735,669–57,758,271, forward strandKATNB1KIFC3: 57,755,668–57,863,053, reverse strandKIFC3CNGB1: 57,882,340–57,971,128, reverse strandCNGB1SPMIP8: 57,976,435–57,988,116, forward strandSPMIP8ZNF319: 57,994,673–58,000,718, reverse strandZNF319USB1: 57,999,546–58,021,618, forward strandUSB1MMP15: 58,025,555–58,046,901, forward strandMMP15CFAP20: 58,113,167–58,129,429, reverse strandCFAP20CSNK2A2: 58,157,907–58,198,191, reverse strandCSNK2A2CFAP263: 58,231,157–58,283,836, forward strandCFAP263PRSS54: 58,279,997–58,295,047, reverse strandPRSS54GINS3: 58,295,080–58,406,147, forward strandGINS3Diagram of CNGB1: 33 exons on the reverse strand of chromosome 16Exon 32: 3 known disease-causing sitesExon 31: 3 known disease-causing sitesExon 29: 2 known disease-causing sitesExon 28: 3 known disease-causing sitesExon 27: 4 known disease-causing sitesExon 26: 11 known disease-causing sitesExon 25: 1 known disease-causing siteExon 24: 1 known disease-causing siteExon 23: 5 known disease-causing sitesExon 22: 1 known disease-causing siteExon 21: 7 known disease-causing sitesExon 20: 2 known disease-causing sitesExon 19: 4 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 15: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 11: 2 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 33: 57,882,340–57,884,457, 2,118 basesExon 32: 57,887,855–57,888,074, 220 basesExon 31: 57,897,397–57,897,543, 147 basesExon 30: 57,897,796–57,897,914, 119 basesExon 29: 57,901,352–57,901,435, 84 basesExon 28: 57,901,528–57,901,625, 98 basesExon 27: 57,903,822–57,903,981, 160 basesExon 26: 57,904,734–57,904,875, 142 basesExon 25: 57,911,753–57,911,875, 123 basesExon 24: 57,912,930–57,912,994, 65 basesExon 23: 57,915,249–57,915,335, 87 basesExon 22: 57,916,129–57,916,179, 51 basesExon 21: 57,917,268–57,917,476, 209 basesExon 20: 57,919,099–57,919,254, 156 basesExon 19: 57,920,387–57,920,544, 158 basesExon 18: 57,923,273–57,923,380, 108 basesExon 17: 57,931,716–57,931,878, 163 basesExon 16: 57,939,430–57,939,592, 163 basesExon 15: 57,940,234–57,940,321, 88 basesExon 14: 57,949,353–57,949,439, 87 basesExon 13: 57,950,381–57,950,540, 160 basesExon 12: 57,957,341–57,957,377, 37 basesExon 11: 57,958,410–57,958,485, 76 basesExon 10: 57,959,888–57,960,065, 178 basesExon 9: 57,960,482–57,960,530, 49 basesExon 8: 57,960,840–57,960,915, 76 basesExon 7: 57,962,565–57,962,610, 46 basesExon 6: 57,962,842–57,962,872, 31 basesExon 5: 57,962,974–57,963,064, 91 basesExon 4: 57,964,130–57,964,202, 73 basesExon 3: 57,964,487–57,964,544, 58 basesExon 2: 57,967,128–57,967,294, 167 basesExon 1: 57,971,060–57,971,128, 69 bases333025201510515′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 5.7 kb of the gene's 88.8 kb; 3,756 of those bases code for the protein.

How a genome test reads CNGB1

106

positions in CNGB1 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 88.8 kb of CNGB1, introns included, not only the 5.7 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.). CNGB1 gene: cyclic nucleotide gated channel subunit beta 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/cngb1

Vancouver

Dante Labs. CNGB1 gene: cyclic nucleotide gated channel subunit beta 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cngb1

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