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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 prote... See more...
Aliases for ATF6 Gene
Aliases for ATF6 Gene
External Ids for ATF6 Gene
- HGNC: 791
- Entrez Gene: 22926
- Ensembl: ENSG00000118217
- OMIM: 605537
- UniProtKB: P18850
Previous GeneCards Identifiers for ATF6 Gene
- GC01P159370
- GC01P157386
- GC01P158432
- GC01P158923
- GC01P158467
- GC01P160002
- GC01P161736
- GC01P132981
Summaries for ATF6 Gene
-
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]
GeneCards Summary for ATF6 Gene
ATF6 (Activating Transcription Factor 6) is a Protein Coding gene. Diseases associated with ATF6 include Achromatopsia 7 and Achromatopsia. Among its related pathways are Photodynamic therapy-induced unfolded protein response and PERK regulates gene expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is ATF6B.
UniProtKB/Swiss-Prot Summary for ATF6 Gene
-
Transmembrane glycoprotein of the endoplasmic reticulum that functions as a transcription activator and initiates the unfolded protein response (UPR) during endoplasmic reticulum stress. Cleaved upon ER stress, the N-terminal processed cyclic AMP-dependent transcription factor ATF-6 alpha translocates to the nucleus where it activates transcription of genes involved in the UPR. Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3'). Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor. May play a role in foveal development and cone function in the retina.
Additional gene information for ATF6 Gene
- HGNC(791)
- Entrez Gene(22926)
- Ensembl(ENSG00000118217)
- OMIM(605537)
- UniProtKB(P18850)
- Open Targets Platform(ENSG00000118217)
- Monarch Initiative
- Search for ATF6 at DataMed
- Search for ATF6 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATF6 Gene
Genomics for ATF6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ATF6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATF6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATF6
- Top Transcription factor binding sites by QIAGEN in the ATF6 gene promoter:
-
- AML1a
- ATF6
- c-Myb
- CREB
- deltaCREB
- E47
- Tal-1
- USF-1
- USF1
Genomic Locations for ATF6 Gene
Genomic Locations for ATF6 Gene
- chr1:161,766,320-161,964,070
- (GRCh38/hg38)
- Size:
- 197,751 bases
- Orientation:
- Plus strand
- chr1:161,736,084-161,933,860
- (GRCh37/hg19)
- Size:
- 197,777 bases
- Orientation:
- Plus strand
Genomic View for ATF6 Gene
Genes around ATF6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q23.3 by HGNC
- 1q23.3 by Entrez Gene
- 1q23.3 by Ensembl
ATF6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ATF6 Gene
Proteins for ATF6 Gene
-
Protein details for ATF6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P18850-ATF6A_HUMAN
- Recommended name:
- Cyclic AMP-dependent transcription factor ATF-6 alpha
- Protein Accession:
- P18850
- O15139
- Q5VW62
- Q6IPB5
- Q9UEC9
Protein attributes for ATF6 Gene
- Size:
- 670 amino acids
- Molecular mass:
- 74585 Da
- Quaternary structure:
-
- Homodimer and heterodimer with ATF6-beta. The dimer interacts with the nuclear transcription factor Y (NF-Y) trimer through direct binding to NF-Y subunit C (NF-YC). Interacts also with the transcription factors GTF2I, YY1 and SRF. Interacts (via lumenal domain) with THBS1 (By similarity). Interacts with THBS4 (via EGF-like 3; calcium-binding domain) which facilitates its processing, activation and nuclear translocation (PubMed:22682248). Interacts with XBP1 isoform 2; the interaction occurs in a ER stress-dependent manner (PubMed:17765680). Interacts with LACC1 (PubMed:31875558).
Protein Expression for ATF6 Gene
Post-translational modifications for ATF6 Gene
- During unfolded protein response, a fragment of approximately 50 kDa containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage seems to be performed sequentially by site-1 and site-2 proteases.
- N-glycosylated. The glycosylation status may serve as a sensor for ER homeostasis, resulting in ATF6 activation to trigger the unfolded protein response (UPR).
- Phosphorylated in vitro by MAPK14/P38MAPK.
-
Glycosylation at Asn472, Asn584, and Asn643
- NX_P18850 (NX_P18850-1)
-
Ubiquitination at Lys424 and Lys436
- NX_P18850 (NX_P18850-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- ATF6A_HUMAN (1162)
Other Protein References for ATF6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences ATF6 Monoclonal Antibody and ATF6 Antibody
- G Biosciences Immunotag™ ATF6 Antibody
- NSJ Bioreagents ATF6 Antibody
- Creative Diagnostics Anti-ATF6 monoclonal antibody, clone 81C2524
- Creative Biolabs Recombinant Mouse Anti-ATF6 Monoclonal Antibody (8D3)
-
Custom Antibody ServicesOriGene Antibodies for ATF6
- Novus Biologicals Antibodies for ATF6
-
Abcam antibodies for ATF6
- Invitrogen Antibodies for ATF6 (AFLGC-ATF6)
- antibodies-online: Show 66 available ATF6 Antibodies ranked by validation data
- Compare Top ATF6 Antibodies
-
Recommended
- 162 WB Antibodies (anti-human)
- 10 FACS Antibodies (anti-human)
- 7 IP Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 1 IF Antibody (anti-human)
- 71 WB Antibodies (anti-mouse)
- 4 IP Antibodies (anti-mouse)
- 3 FACS Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 45 WB Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 3 FACS Antibodies (anti-rat)
-
Custom Antibody ServicesProSci Antibodies for ATF6
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATF6
Protein Products
- Creative Biomart Recombinant Human ATF6, His-tagged
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ATF6
- Origene Custom Protein Services for ATF6
- Novus Biologicals proteins for ATF6
-
Abcam proteins for ATF6
Assay Products
- Creative Diagnostics Human ATF6 ELISA Matched Antibody Pair
- Novus Biologicals ELISA Kits for ATF6
-
Signalway ELISA kits for ATF6
No data available for DME Specific Peptides for ATF6 Gene
Domains & Families for ATF6 Gene
Gene Families for ATF6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted membrane proteins
- Transcription factors
Protein Domains for ATF6 Gene
Suggested Antigen Peptide Sequences for ATF6 Gene
- GenScript: Design optimal peptide antigens:
-
- Activating transcription factor 6 alpha (ATF6A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P18850UniProtKB/Swiss-Prot:
ATF6A_HUMAN :- The basic domain functions as a nuclear localization signal.
- Belongs to the bZIP family. ATF subfamily.
- Domain:
-
- The basic domain functions as a nuclear localization signal.
- The basic leucine-zipper domain is sufficient for association with the NF-Y trimer and binding to ERSE.
- Family:
-
- Belongs to the bZIP family. ATF subfamily.
Function for ATF6 Gene
Molecular function for ATF6 Gene
- UniProtKB/Swiss-Prot Function:
- Transmembrane glycoprotein of the endoplasmic reticulum that functions as a transcription activator and initiates the unfolded protein response (UPR) during endoplasmic reticulum stress. Cleaved upon ER stress, the N-terminal processed cyclic AMP-dependent transcription factor ATF-6 alpha translocates to the nucleus where it activates transcription of genes involved in the UPR. Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3'). Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor. May play a role in foveal development and cone function in the retina.
Phenotypes From GWAS Catalog for ATF6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 16469704 |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 11779464 |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 24269637 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 14973138 |
Phenotypes for ATF6 Gene
- MGI mutant phenotypes for ATF6:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for ATF6:
-
- Increased vaccinia virus (VACV) infection
- no effect
- shRNA abundance <= 25%
- Decreased viability after Maraba virus infection
- Increased hepcidin::fluc mRNA expression
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Mitotic spindle defects
- Decreased circadian period length
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATF6 - Select products 50% OFF >
- * ATF6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ATF6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATF6
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATF6
miRNA for ATF6 Gene
- miRTarBase miRNAs that target ATF6
-
- hsa-miR-503-5p (MIRT000650)
- hsa-miR-424-5p (MIRT000658)
- hsa-miR-335-5p (MIRT019158)
- hsa-miR-191-5p (MIRT045796)
- hsa-miR-199a-5p (MIRT053103)
- mmu-miR-216a-5p (MIRT584749)
- mmu-miR-290a-5p (MIRT584750)
- mmu-miR-292a-5p (MIRT584751)
- hsa-miR-552-5p (MIRT615631)
- hsa-miR-6780a-5p (MIRT615632)
- hsa-miR-6779-5p (MIRT615633)
- hsa-miR-3689c (MIRT615634)
- hsa-miR-3689b-3p (MIRT615635)
- hsa-miR-3689a-3p (MIRT615636)
- hsa-miR-30b-3p (MIRT615637)
- hsa-miR-1273h-5p (MIRT615638)
- hsa-miR-6799-5p (MIRT615639)
- hsa-miR-6883-5p (MIRT615640)
- hsa-miR-6785-5p (MIRT615641)
- hsa-miR-4728-5p (MIRT615642)
- hsa-miR-149-3p (MIRT615643)
- hsa-miR-7106-5p (MIRT615644)
- hsa-miR-6871-5p (MIRT615645)
- hsa-miR-208b-5p (MIRT615646)
- hsa-miR-208a-5p (MIRT615647)
- hsa-miR-7153-3p (MIRT615648)
Transcription Factor Targets for ATF6 Gene
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATF6
- Browse OriGene Inhibitory RNA Products For ATF6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATF6
Clone Products
- Applied Biological Materials (abm): Clones for ATF6 - Select products 50% OFF >
- * ATF6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ATF6
- Addgene plasmids for ATF6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATF6
No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for ATF6 Gene
Localization for ATF6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ATF6 Gene
- Endoplasmic reticulum membrane. Single-pass type II membrane protein.
- [Processed cyclic AMP-dependent transcription factor ATF-6 alpha]: Nucleus. Note=Under ER stress the cleaved N-terminal cytoplasmic domain translocates into the nucleus. THBS4 promotes its nuclear shuttling.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| mitochondrion | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| peroxisome | 2 |
| endosome | 2 |
| lysosome | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | TAS,IDA | 11163209 |
| GO:0005635 | nuclear envelope | TAS | 10866666 |
| GO:0005654 | nucleoplasm | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATF6 Gene
Pathways & Interactions for ATF6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Unfolded Protein Response (UPR) | ||
| 2 | Parkinson disease | ||
| 3 | IL1 Signaling Pathway | ||
| 4 | TNFR1 Pathway |
TNF Signaling
.55
|
.34
|
| 5 | ERK Signaling |
MAPK Signaling
.58
|
ILK Signaling
.49
|
Pathways by source for ATF6 Gene
3 Sino Biological pathways for ATF6 Gene
4 BioSystems pathways for ATF6 Gene
6 Reactome pathways for ATF6 Gene
3 KEGG pathways for ATF6 Gene
10 Qiagen pathways for ATF6 Gene
- Ceramide Pathway
- Epithelial Tight Junctions
- ILK Signaling
- iNOS Signaling
- ITK and TCR Signaling
1 Cell Signaling Technology pathway for ATF6 Gene
1 GeneTex pathway for ATF6 Gene
Interacting Proteins for ATF6 Gene
Selected Interacting proteins:
P18850-ATF6A_HUMAN
ENSP00000356919
for ATF6 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ATF6
SIGNOR curated interactions for ATF6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001654 | eye development | IMP | 26029869 |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | TAS | 10564271 |
| GO:0006457 | protein folding | TAS | 10564271 |
| GO:0006986 | response to unfolded protein | IEA | -- |
Drugs & Compounds for ATF6 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- Creative Biomart Recombinant Human ATF6, His-tagged
Transcripts for ATF6 Gene
mRNA/cDNA for ATF6 Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367942 7470 nts (view in UCSC)
- ENST00000476437 778 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATF6 - Select products 50% OFF >
- * ATF6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ATF6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATF6
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATF6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATF6
- Browse OriGene Inhibitory RNA Products For ATF6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATF6
Clone Products
- Applied Biological Materials (abm): Clones for ATF6 - Select products 50% OFF >
- * ATF6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ATF6
- Addgene plasmids for ATF6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATF6
Relevant External Links for ATF6 Gene
- GeneLoc Exon Structure for
- ATF6
Expression for ATF6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for ATF6 Gene
This gene is overexpressed in Whole Blood (x4.3).
This gene is overexpressed in Serum (66.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATF6 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATF6
SOURCE GeneReport for Unigene cluster for ATF6 Gene:
Hs.492740mRNA Expression by UniProt/SwissProt for ATF6 Gene:
P18850-ATF6A_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for ATF6 Gene
- Pancreas(4.6)
- Nervous system(4.4)
- Liver(3.5)
- Kidney(3.5)
- Lung(3.3)
- Heart(3.2)
- Muscle(3.1)
- Spleen(2.8)
- Intestine(2.8)
- Skin(2.7)
- Blood(2.5)
- Stomach(2.4)
- Adrenal gland(2.3)
- Bone marrow(2.2)
- Lymph node(2.2)
- Thyroid gland(2.2)
- Eye(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ATF6 Gene
Germ Layers:
- ectoderm
Systems:
- nervous
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- eyelid
- head
General:
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for ATF6
Gene Expression Assay Products
Orthologs for ATF6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATF6 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATF6 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATF6 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Atf6 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Atf6 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ATF6 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ATF6 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ATF6 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ATF6 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atf6 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | atf6 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Atf6 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for ATF6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for ATF6 Gene
- ENSEMBL:
- Gene Tree for ATF6 (if available)
- TreeFam:
- Gene Tree for ATF6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATF6: view image
Paralogs for ATF6 Gene
Variants for ATF6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATF6 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 713560 | Likely Benign: not provided | 161,860,275(+) | C/T | SYNONYMOUS_VARIANT | |
| 717816 | Benign: not provided | 161,802,224(+) | C/T | SYNONYMOUS_VARIANT | |
| 718142 | Benign: not provided | 161,802,196(+) | C/T | MISSENSE_VARIANT | |
| 726044 | Benign: not provided | 161,851,818(+) | C/T | SYNONYMOUS_VARIANT | |
| 727701 | Likely Benign: not provided | 161,783,981(+) | G/A | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3304870 | CNV | mobile element insertion | 20981092 |
| esv3336606 | CNV | duplication | 20981092 |
| esv33393 | CNV | gain+loss | 17666407 |
| esv3450329 | CNV | insertion | 20981092 |
| esv3578231 | CNV | loss | 25503493 |
| esv3587736 | CNV | gain | 21293372 |
| esv3587737 | CNV | loss | 21293372 |
| nsv1007108 | CNV | gain | 25217958 |
| nsv1014340 | CNV | loss | 25217958 |
| nsv1137819 | CNV | deletion | 24896259 |
| nsv3276 | CNV | insertion | 18451855 |
| nsv428257 | CNV | loss | 18775914 |
| nsv464184 | CNV | gain | 19166990 |
| nsv464206 | CNV | gain | 19166990 |
| nsv470744 | CNV | gain | 18288195 |
| nsv548075 | CNV | gain | 21841781 |
| nsv548077 | CNV | gain | 21841781 |
| nsv831747 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
12.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
11.62;
93.12% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ATF6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATF6 Gene
Disorders for ATF6 Gene
(14) MalaCards diseases for ATF6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| achromatopsia 7 |
|
|
| achromatopsia |
|
|
| cone-rod dystrophy 2 |
|
|
| wolfram syndrome 1 |
|
|
| wolfram syndrome |
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Search ATF6 in MalaCards
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UniProtKB/Swiss-Prot
ATF6A_HUMAN- Achromatopsia 7 (ACHM7) [MIM:616517]: A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. {ECO:0000269 PubMed:26029869, ECO:0000269 PubMed:26063662}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ATF6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for ATF6 Gene
Publications for ATF6 Gene
- Identification of the cis-acting endoplasmic reticulum stress response element responsible for transcriptional induction of mammalian glucose-regulated proteins. Involvement of basic leucine zipper transcription factors. (PMID: 9837962) Yoshida H … Mori K (The Journal of biological chemistry 1998) 2 3 4 23
- Interaction of ATF6 and serum response factor. (PMID: 9271374) Zhu C … Prywes R (Molecular and cellular biology 1997) 2 3 4 23
- The ATF6-Met[67]Val substitution is associated with increased plasma cholesterol levels. (PMID: 19667116) Meex SJ … Glembotski CC (Arteriosclerosis, thrombosis, and vascular biology 2009) 3 23 41
- Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traits. (PMID: 17327457) Chu WS … Elbein SC (Diabetes 2007) 3 23 41
- Activating transcription factor 6 polymorphisms and haplotypes are associated with impaired glucose homeostasis and type 2 diabetes in Dutch Caucasians. (PMID: 17440018) Meex SJ … de Bruin TW (The Journal of clinical endocrinology and metabolism 2007) 3 23 41
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