Gene: ATF6

Alternate names for this Gene: ACHM7|ATF6A

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.3

Description of this Gene: activating transcription factor 6

Type of Gene: protein-coding

rs761129859 in ATF6 gene and ACHROMATOPSIA 7 PMID 26029869 2015 Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

PMID 26063662 2015 Mutation of ATF6 causes autosomal recessive achromatopsia.

rs761129859 in ATF6 gene and Achromatopsia PMID 26029869 2015 Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

rs16849542 in ATF6 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1027700 in ATF6 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 22158537 2011 Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.

rs16849542 in ATF6 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs16849542 in ATF6 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1006310 in ATF6 gene and White Blood Cell Count procedure PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).