AlphaFold predicted structure
ATF6 · P18850
Mean pLDDT
55.2/ 100
Low
670 residues
Confidence breakdown
- Very high(≥ 90)15%
- Confident(70–90)13%
- Low(50–70)10%
- Very low(< 50)62%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ATF6
Chr 1q23.3activating transcription factor 6
- Aliases:
- ATF6A, ATP6alpha
- MANE:
- ENST00000367942.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
achromatopsia
0.75Retinal dystrophy
0.47Sensorineural hearing impairment
0.42Cone rod dystrophy
0.39cone-rod dystrophy
0.38Rod-cone dystrophy
0.38alcohol drinking
0.27Macular dystrophy
0.26adolescent idiopathic scoliosis
0.22neutropenia
0.20
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cyclic AMP-dependent transcription factor ATF-6 alpha
Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 alpha), which is embedded in the endoplasmic reticulum membrane (PubMed:10564271, PubMed:11158310, PubMed:11779464). Endoplasmic reticulum stress promotes processing of this form, releasing the transcription factor form that translocates into the nucleus, where it activates transcription of genes involved in the unfolded protein response (UPR) (PubMed:10564271, PubMed:11158310, PubMed:11779464)
Diseases associated with ATF6
Curated MONDO disease pages that list ATF6 among their top associated genes.