ATF6B
Activating Transcription Factor 6 Beta: A Key Regulator of the Unfolded Protein Response
Gene Information Card
| Symbol | ATF6B |
|---|---|
| Full Name | Activating Transcription Factor 6 Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 1388 ncbi.nlm.nih.gov/gene/1388 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q99941 |
| OMIM ID | 600984 |
| HGNC ID | 792 |
| Aliases | ATF6-beta, CREBL1, G13 |
Description
ATF6B (Activating Transcription Factor 6 Beta) encodes a transcription factor that is a member of the ATF/CREB family. It is a key component of the unfolded protein response (UPR), a cellular stress response activated by the accumulation of misfolded proteins in the endoplasmic reticulum (ER). Under ER stress, ATF6B is cleaved and translocates to the nucleus to regulate the expression of genes involved in protein folding, ER-associated degradation (ERAD), and other adaptive processes. ATF6B can form homodimers or heterodimers with other transcription factors, modulating its activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Achromatopsia 7 | Mutations in ATF6B impair the UPR in cone photoreceptors, leading to cell death and loss of color vision. | ClinVar, OMIM |
| Endoplasmic Reticulum Stress-Related Disorders | Dysregulation of ATF6B-mediated UPR contributes to the pathogenesis of various diseases, including neurodegenerative disorders and diabetes. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.7 | Medium |
| Brain | 8.5 | Low |
| Liver | 7.2 | Low |
| Heart | 6.1 | Low |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cells |
| HeLa | 11.2 | Cervical cancer cells |
| K562 | 9.8 | Leukemia cells |
| HepG2 | 8.1 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42Cys) | Missense | Rare | Associated with achromatopsia 7; may impair protein function. |
| c.458G>A (p.Arg153His) | Missense | Rare | Likely pathogenic; affects DNA-binding domain. |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with achromatopsia. |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the DNA-binding domain or prevent protein cleavage lead to loss of ATF6B function, impairing the UPR and contributing to disease.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ATF6B.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by forming non-functional dimers with wild-type ATF6B or other ATF/CREB proteins.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • unfolded protein response | • endoplasmic reticulum unfolded protein response |
| • positive regulation of transcription by RNA polymerase II | • negative regulation of transcription by RNA polymerase II |
| • protein homodimerization activity | • protein heterodimerization activity |
Pathways
• Unfolded Protein Response (UPR)
• ATF6-alpha activates chaperones
• Endoplasmic Reticulum Stress Pathway
Protein Summary
ATF6B is a 670-amino acid protein with a basic leucine zipper (bZIP) domain. It is synthesized as a transmembrane protein in the ER. Under ER stress, it is transported to the Golgi apparatus where it is cleaved by site-1 and site-2 proteases, releasing its N-terminal cytoplasmic domain. This fragment translocates to the nucleus and activates transcription of UPR target genes. ATF6B shares functional redundancy with ATF6A but also has distinct roles in specific tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATF6B Knockout HEK293 Cell Line | EDJ-KQ764 | Human | 1388 | Details Get a Quote |
| ATF6B Knockout HeLa Cell Line | EDJ-KQ17957 | Human | 1388 | Details Get a Quote |
| ATF6B Knockout A-549 Cell Line | EDJ-KQ19452 | Human | 1388 | Details Get a Quote |
| ATF6B Knockout HCT 116 Cell Line | EDJ-KQ19453 | Human | 1388 | Details Get a Quote |
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