Gene
GNB3
G protein subunit beta 3
- HGNC 4400↗(opens in a new tab)
- Ensembl gene ENSG00000111664↗(opens in a new tab)
- NCBI Gene 2784↗(opens in a new tab)
Summary
- Cytogenetic location
- 12p13.31
- Coordinates
- Chromosome 12: 6,840,925–6,847,393 (GRCh38)
- Exons
- 10 exons across 6.5 kb
- Protein
- 340 amino acids
- MANE Select transcript
- ENST00000229264.8NM_002075.4
- 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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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.
How GNB3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 1.7 kb of the gene's 6.5 kb; 1,023 of those bases code for the protein.
Genes linked to the same conditions
- CABP4calcium binding protein 4Shares 1 condition
- CACNA1Fcalcium voltage-gated channel subunit alpha1 FShares 1 condition
- GNAT1G protein subunit alpha transducin 1Shares 1 condition
- GPR179G protein-coupled receptor 179Shares 1 condition
- GRK1G protein-coupled receptor kinase 1Shares 1 condition
- GRM6glutamate metabotropic receptor 6Shares 1 condition
- GUCY2Dguanylate cyclase 2D, retinalShares 1 condition
- LRIT3leucine rich repeat, Ig-like and transmembrane domains 3Shares 1 condition
- NYXnyctalopinShares 1 condition
- PDE6Bphosphodiesterase 6BShares 1 condition
- RHOrhodopsinShares 1 condition
- RIMS2regulating synaptic membrane exocytosis 2Shares 1 condition
Traits linked to GNB3
The Human Phenotype Ontology lists these as features of the rare conditions GNB3 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.
- 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.). GNB3 gene: G protein subunit beta 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/gnb3
Dante Labs. GNB3 gene: G protein subunit beta 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gnb3
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