ATF6 Chromosome 1

Activating transcription factor 6

42 variants 42 Health Risk

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

Health Risk

Health Risk

Achromatopsia 7, Achromatopsia 7

Health Risk

Health Risk

Health Risk

Health Risk

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