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Gene

SAG

S-antigen visual arrestin

Summary

Cytogenetic location
2q37.1
Coordinates
Chromosome 2: 233,307,816–233,347,055 (GRCh38)
Exons
16 exons across 39.2 kb
Protein
405 amino acids
Also known as
ARRESTIN, RP47
MANE Select transcript
ENST00000409110.6NM_000541.5
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

  • 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.

      • 3 GenCC submitters rate 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.

Broader groupings

  • Retinitis Pigmentosa

    • 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.

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

How SAG is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where SAG sits. SAG and 18 genes near it on chromosome 2, from 232,827,436 to 233,827,435.Chromosome 22q37.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3233 Mb233.2 Mb233.4 Mb233.6 Mb233.8 MbGIGYF2: 232,697,259–232,863,338, forward strandGIGYF2SNORC: 232,857,270–232,878,708, forward strandSNORCNGEF: 232,878,686–233,013,263, reverse strandNGEFNEU2: 233,023,032–233,042,480, forward strandNEU2INPP5D: 233,059,967–233,207,903, forward strandINPP5DATG16L1: 233,210,051–233,295,674, forward strandATG16L1SAG: 233,307,816–233,347,055, forward strandSAGDGKD: 233,354,475–233,472,104, forward strandDGKDUSP40: 233,475,526–233,566,783, reverse strandUSP40UGT1A8: 233,617,633–233,773,310, forward strandUGT1A8UGT1A10: 233,636,447–233,773,310, forward strandUGT1A10UGT1A9: 233,671,734–233,773,310, forward strandUGT1A9UGT1A7: 233,681,885–233,773,310, forward strandUGT1A7UGT1A6: 233,691,607–233,773,300, forward strandUGT1A5: 233,712,907–233,773,310, forward strandUGT1A4: 233,718,727–233,773,310, forward strandUGT1A3: 233,729,042–233,773,310, forward strandUGT1A1: 233,760,262–233,773,313, forward strandMROH2A: 233,775,679–233,833,423, forward strandDiagram of SAG: 16 exons on the forward strand of chromosome 2Exon 2: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 11: 3 known disease-causing sitesExon 1: 233,307,816–233,308,022, 207 basesExon 2: 233,309,162–233,309,264, 103 basesExon 3: 233,316,075–233,316,135, 61 basesExon 4: 233,318,751–233,318,795, 45 basesExon 5: 233,320,630–233,320,823, 194 basesExon 6: 233,322,946–233,323,005, 60 basesExon 7: 233,327,121–233,327,197, 77 basesExon 8: 233,328,478–233,328,613, 136 basesExon 9: 233,329,493–233,329,577, 85 basesExon 10: 233,331,640–233,331,712, 73 basesExon 11: 233,334,962–233,335,099, 138 basesExon 12: 233,338,676–233,338,753, 78 basesExon 13: 233,340,455–233,340,478, 24 basesExon 14: 233,342,271–233,342,326, 56 basesExon 15: 233,346,403–233,346,412, 10 basesExon 16: 233,346,807–233,347,055, 249 bases12468101214165′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 1.6 kb of the gene's 39.2 kb; 1,218 of those bases code for the protein.

How a genome test reads SAG

18

positions in SAG 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 39.2 kb of SAG, introns included, not only the 1.6 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.). SAG gene: S-antigen visual arrestin. Retrieved 17 October 2026, from https://dantelabs.com/genes/sag

Vancouver

Dante Labs. SAG gene: S-antigen visual arrestin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sag

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