Skip to content
Use your HSA or FSA funds

Gene

GNB1

G protein subunit beta 1

Summary

Cytogenetic location
1p36.33
Coordinates
Chromosome 1: 1,785,286–1,891,087 (GRCh38)
Exons
12 exons across 105.8 kb
Protein
340 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000378609.9NM_002074.5
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 reports relevant to this gene

  • Epilepsy (Full Panel)

    • Intellectual Disability, Autosomal Dominant 42Autosomal dominant

      Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males.

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

Broader groupings

  • Intellectual Disability

    • One of 233 genes linked to it

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

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How GNB1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where GNB1 sits. GNB1 and 28 genes near it on chromosome 1, from 1,338,187 to 2,338,186.Chromosome 11p36.33p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q441.4 Mb1.6 Mb1.8 Mb2 Mb2.2 MbDVL1: 1,335,275–1,349,962, reverse strandDVL1MXRA8: 1,352,683–1,361,800, reverse strandMXRA8AURKAIP1: 1,373,710–1,375,521, reverse strandAURKAIP1CCNL2: 1,385,709–1,400,909, reverse strandMRPL20: 1,401,907–1,407,306, reverse strandANKRD65: 1,415,637–1,421,769, reverse strandANKRD65TMEM278: 1,425,871–1,430,255, forward strandTMEM278VWA1: 1,434,861–1,446,012, forward strandVWA1ATAD3C: 1,449,689–1,470,163, forward strandATAD3CATAD3B: 1,471,742–1,497,848, forward strandATAD3BATAD3A: 1,512,118–1,534,689, forward strandATAD3ATMEM240: 1,534,778–1,540,624, reverse strandTMEM240SSU72: 1,541,673–1,574,887, reverse strandSSU72FNDC10: 1,598,012–1,600,135, reverse strandFNDC10MIB2: 1,615,433–1,630,610, forward strandMIB2MMP23B: 1,631,660–1,635,263, forward strandMMP23BCDK11B: 1,635,225–1,659,267, reverse strandCDK11BSLC35E2B: 1,659,529–1,693,059, reverse strandSLC35E2BCDK11A: 1,702,379–1,724,571, reverse strandCDK11ANADK: 1,751,232–1,780,544, reverse strandNADKGNB1: 1,785,286–1,891,087, reverse strandGNB1CALML6: 1,915,081–1,917,296, forward strandCALML6TMEM52: 1,917,589–1,919,329, reverse strandTMEM52CFAP74: 1,921,951–2,003,837, reverse strandCFAP74GABRD: 2,019,305–2,030,758, forward strandGABRDPRKCZ: 2,050,396–2,185,721, forward strandPRKCZFAAP20: 2,184,411–2,212,720, reverse strandFAAP20SKI: 2,227,388–2,310,213, forward strandSKIMORN1: 2,319,208–2,391,722, reverse strandMORN1Diagram of GNB1: 12 exons on the reverse strand of chromosome 1Exon 11: 2 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 8: 1 known disease-causing siteExon 7: 10 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 12: 1,785,286–1,787,053, 1,768 basesExon 11: 1,787,322–1,787,437, 116 basesExon 10: 1,789,053–1,789,269, 217 basesExon 9: 1,790,395–1,790,596, 202 basesExon 8: 1,793,245–1,793,311, 67 basesExon 7: 1,804,419–1,804,581, 163 basesExon 6: 1,806,475–1,806,538, 64 basesExon 5: 1,815,756–1,815,862, 107 basesExon 4: 1,817,837–1,817,875, 39 basesExon 3: 1,825,397–1,825,499, 103 basesExon 2: 1,839,190–1,839,238, 49 basesExon 1: 1,890,820–1,891,087, 268 bases1210864215′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 3.2 kb of the gene's 105.8 kb; 1,023 of those bases code for the protein.

How a genome test reads GNB1

28

positions in GNB1 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 105.8 kb of GNB1, introns included, not only the 3.2 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.). GNB1 gene: G protein subunit beta 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/gnb1

Vancouver

Dante Labs. GNB1 gene: G protein subunit beta 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gnb1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test