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Gene

GNAT2

G protein subunit alpha transducin 2

Summary

Cytogenetic location
1p13.3
Coordinates
Chromosome 1: 109,603,091–109,619,616 (GRCh38)
Exons
9 exons across 16.5 kb
Protein
354 amino acids
Inheritance
Autosomal recessive
Also known as
ACHM4
MANE Select transcript
ENST00000679935.1NM_001377295.2
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

    • GNAT2-Related RetinopathyAutosomal recessive

      A cone disorder caused by changes in both copies of GNAT2.

      • 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 GNAT2 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 GNAT2 sits. GNAT2 and 25 genes near it on chromosome 1, from 109,111,354 to 110,111,353.Chromosome 11p13.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44109.2 Mb109.4 Mb109.6 Mb109.8 Mb110 MbCFAP276: 109,105,951–109,113,857, reverse strandCFAP276ELAPOR1: 109,113,175–109,206,781, forward strandELAPOR1SARS1: 109,213,844–109,239,456, forward strandSARS1CELSR2: 109,249,539–109,275,751, forward strandCELSR2PSRC1: 109,279,053–109,284,107, reverse strandPSRC1MYBPHL: 109,292,363–109,307,213, reverse strandMYBPHLSORT1: 109,309,568–109,397,967, reverse strandSORT1PSMA5: 109,399,042–109,426,471, reverse strandPSMA5SYPL2: 109,466,529–109,482,142, forward strandSYPL2ATXN7L2: 109,483,479–109,492,812, forward strandATXN7L2CYB561D1: 109,494,052–109,502,932, forward strandCYB561D1AMIGO1: 109,503,464–109,509,758, reverse strandAMIGO1GPR61: 109,539,872–109,548,406, forward strandGPR61GNAI3: 109,548,582–109,600,195, forward strandGNAI3GNAT2: 109,603,091–109,619,616, reverse strandGNAT2AMPD2: 109,616,104–109,632,055, forward strandAMPD2GSTM4: 109,656,069–109,665,800, forward strandGSTM4GSTM2: 109,667,348–109,709,552, forward strandGSTM2GSTM1: 109,687,309–109,709,552, forward strandGSTM1GSTM5: 109,711,746–109,776,019, forward strandGSTM5GSTM3: 109,731,688–109,741,038, reverse strandGSTM3EPS8L3: 109,750,078–109,764,062, reverse strandEPS8L3CSF1: 109,910,242–109,930,993, forward strandCSF1AHCYL1: 109,984,721–110,023,742, forward strandAHCYL1STRIP1: 110,031,577–110,074,641, forward strandSTRIP1ALX3: 110,059,870–110,070,677, reverse strandALX3Diagram of GNAT2: 9 exons on the reverse strand of chromosome 1Exon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 3 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 9: 109,603,091–109,603,544, 454 basesExon 8: 109,603,951–109,604,104, 154 basesExon 7: 109,605,970–109,606,099, 130 basesExon 6: 109,606,308–109,606,436, 129 basesExon 5: 109,608,631–109,608,788, 158 basesExon 4: 109,610,040–109,610,181, 142 basesExon 3: 109,610,465–109,610,507, 43 basesExon 2: 109,612,753–109,612,923, 171 basesExon 1: 109,619,483–109,619,616, 134 bases9876543215′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 1.5 kb of the gene's 16.5 kb; 1,065 of those bases code for the protein.

How a genome test reads GNAT2

10

positions in GNAT2 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 16.5 kb of GNAT2, introns included, not only the 1.5 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.). GNAT2 gene: G protein subunit alpha transducin 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/gnat2

Vancouver

Dante Labs. GNAT2 gene: G protein subunit alpha transducin 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gnat2

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