ATF6 Chromosome 1
Activating transcription factor 6
Upload your DNA to see your personal genotypes for variants in ATF6.
What This Gene Does
This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Basic leucine zipper proteins
Locus Type
gene with protein product
Location
1q23.3
Ensembl
ENSG00000118217
Associated Conditions (7)
Inborn genetic diseases
Achromatopsia 7
Macular dystrophy
Achromatopsia
Retinal dystrophy
ATF6-related disorder
Bilateral sensorineural hearing impairment
Key Variants
RS147573850
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS181923135
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200220130
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2525599583
Conflicting classifications of pathogenicity
Achromatopsia 7, Achromatopsia 7
Health Risk
RS1558022158
Likely pathogenic
Achromatopsia 7, Achromatopsia 7
Health Risk
RS1684563533
Likely pathogenic
Health Risk
RS1684640743
Likely pathogenic
Health Risk
RS1685168329
Likely pathogenic
Achromatopsia 7, Achromatopsia 7
Health Risk
RS1685700930
Likely pathogenic
Health Risk
RS1686492794
Likely pathogenic
Health Risk
RS2101705947
Likely pathogenic
Health Risk
RS2525490518
Likely pathogenic
Achromatopsia 7, Achromatopsia 7
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147573850 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS181923135 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200220130 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2525599583 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 7, Achromatopsia 7 |
| RS1558022158 | Health Risk | Likely pathogenic | Achromatopsia 7, Achromatopsia 7 |
| RS1684563533 | Health Risk | Likely pathogenic | — |
| RS1684640743 | Health Risk | Likely pathogenic | — |
| RS1685168329 | Health Risk | Likely pathogenic | Achromatopsia 7, Achromatopsia 7 |
| RS1685700930 | Health Risk | Likely pathogenic | — |
| RS1686492794 | Health Risk | Likely pathogenic | — |
| RS2101705947 | Health Risk | Likely pathogenic | — |
| RS2525490518 | Health Risk | Likely pathogenic | Achromatopsia 7, Achromatopsia 7 |
| RS749537392 | Health Risk | Likely pathogenic | Macular dystrophy, Macular dystrophy |
| RS764142241 | Health Risk | Likely pathogenic | Achromatopsia, Achromatopsia |
| RS765383904 | Health Risk | Likely pathogenic | Achromatopsia, Achromatopsia |
| RS771933147 | Health Risk | Likely pathogenic | Achromatopsia 7, Achromatopsia 7 |
| RS1005962230 | Health Risk | Pathogenic | — |
| RS1379407031 | Health Risk | Pathogenic | — |
| RS146640460 | Health Risk | Pathogenic | Achromatopsia 7, Achromatopsia 7 |
| RS1553227755 | Health Risk | Pathogenic | Achromatopsia, Achromatopsia |
| RS1557995369 | Health Risk | Pathogenic | — |
| RS1571134523 | Health Risk | Pathogenic | Achromatopsia 7, Retinal dystrophy, Achromatopsia 7 |
| RS1571143590 | Health Risk | Pathogenic | Achromatopsia 7, Achromatopsia 7 |
| RS2525120658 | Health Risk | Pathogenic | — |
| RS2525244739 | Health Risk | Pathogenic | — |
| RS2525339224 | Health Risk | Pathogenic | — |
| RS2525339520 | Health Risk | Pathogenic | — |
| RS2525344279 | Health Risk | Pathogenic | — |
| RS367613392 | Health Risk | Pathogenic | — |
| RS760001414 | Health Risk | Pathogenic | — |
| RS761129859 | Health Risk | Pathogenic | Achromatopsia 7, Achromatopsia 7 |
| RS761357250 | Health Risk | Pathogenic | Achromatopsia 7, ATF6-related disorder, Bilateral sensorineural hearing impairment |
| RS778741081 | Health Risk | Pathogenic | — |
| RS796065053 | Health Risk | Pathogenic | Achromatopsia 7, Bilateral sensorineural hearing impairment, Achromatopsia 7 |
| RS797045170 | Health Risk | Pathogenic | Achromatopsia 7, Achromatopsia 7 |
| RS797045171 | Health Risk | Pathogenic | Achromatopsia 7, Achromatopsia 7 |
| RS797045172 | Health Risk | Pathogenic | Achromatopsia 7, Achromatopsia 7 |
| RS797045173 | Health Risk | Pathogenic | Achromatopsia 7, Achromatopsia 7 |
| RS797045174 | Health Risk | Pathogenic | Achromatopsia 7, Achromatopsia 7 |
| RS869320751 | Health Risk | Pathogenic | Achromatopsia 7, Achromatopsia 7 |
| RS889228888 | Health Risk | Pathogenic | — |
| RS915211840 | Health Risk | Pathogenic | Achromatopsia 7, Achromatopsia 7 |