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Gene

ATF6

activating transcription factor 6

Summary

Cytogenetic location
1q23.3
Coordinates
Chromosome 1: 161,766,320–161,964,070 (GRCh38)
Exons
16 exons across 197.8 kb
Protein
670 amino acids
Inheritance
Autosomal recessive
Also known as
ATF6A, ATP6alpha
MANE Select transcript
ENST00000367942.4NM_007348.4
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

    • ATF6-Related RetinopathyAutosomal recessive

      A cone disorder caused by changes in both copies of ATF6.

      • 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 ATF6 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 ATF6 sits. ATF6 and 13 genes near it on chromosome 1, from 161,365,195 to 162,365,194.Chromosome 11q23.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44161.4 Mb161.6 Mb161.8 Mb162 Mb162.2 MbCFAP126: 161,364,733–161,367,885, reverse strandCFAP126FCGR2A: 161,505,415–161,524,013, forward strandFCGR2AHSPA6: 161,524,540–161,526,894, forward strandHSPA6FCGR3A: 161,541,738–161,550,968, reverse strandFCGR3A: 161,544,807–161,631,456, reverse strandFCGR2C: 161,581,339–161,605,662, forward strandFCGR2CFCGR3B: 161,623,193–161,631,963, reverse strandFCGR3BFCGR2B: 161,661,958–161,679,490, forward strandFCGR2BFCRLA: 161,706,958–161,714,352, forward strandFCRLAFCRLB: 161,721,544–161,731,801, forward strandFCRLBDUSP12: 161,749,758–161,757,238, forward strandDUSP12ATF6: 161,766,320–161,964,070, forward strandATF6OLFML2B: 161,983,191–162,024,389, reverse strandOLFML2BNOS1AP: 162,069,676–162,370,475, forward strandNOS1APDiagram of ATF6: 16 exons on the forward strand of chromosome 1Exon 4: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 3 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 13: 1 known disease-causing siteExon 14: 2 known disease-causing sitesExon 1: 161,766,320–161,766,442, 123 basesExon 2: 161,778,244–161,778,320, 77 basesExon 3: 161,781,912–161,781,999, 88 basesExon 4: 161,783,990–161,784,096, 107 basesExon 5: 161,791,408–161,791,537, 130 basesExon 6: 161,792,124–161,792,327, 204 basesExon 7: 161,802,052–161,802,272, 221 basesExon 8: 161,819,633–161,819,818, 186 basesExon 9: 161,821,070–161,821,161, 92 basesExon 10: 161,846,449–161,846,580, 132 basesExon 11: 161,851,722–161,851,835, 114 basesExon 12: 161,853,224–161,853,323, 100 basesExon 13: 161,860,207–161,860,277, 71 basesExon 14: 161,863,198–161,863,312, 115 basesExon 15: 161,912,296–161,912,380, 85 basesExon 16: 161,958,446–161,964,070, 5,625 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 7.5 kb of the gene's 197.8 kb; 2,013 of those bases code for the protein.

How a genome test reads ATF6

18

positions in ATF6 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 197.8 kb of ATF6, introns included, not only the 7.5 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.). ATF6 gene: activating transcription factor 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/atf6

Vancouver

Dante Labs. ATF6 gene: activating transcription factor 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/atf6

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