The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endop... See more...

Aliases for ATF6B Gene

Aliases for ATF6B Gene

  • Activating Transcription Factor 6 Beta 2 3 4 5
  • G13 2 3 4
  • CAMP Response Element-Binding Protein-Related Protein 3 4
  • Cyclic AMP-Dependent Transcription Factor ATF-6 Beta 3 4
  • CAMP-Dependent Transcription Factor ATF-6 Beta 3 4
  • CAMP-Responsive Element-Binding Protein-Like 1 3 4
  • Protein G13 3 4
  • CREBL1 3 4
  • CAMP Responsive Element Binding Protein-Like 1 2
  • Creb-Related Protein 3
  • ATF6-Beta 4
  • CREB-RP 3
  • Creb-Rp 4
  • ATF6B 5

External Ids for ATF6B Gene

Previous HGNC Symbols for ATF6B Gene

  • CREBL1

Previous GeneCards Identifiers for ATF6B Gene

  • GC06M032194
  • GC06M032065
  • GC06M031840

Summaries for ATF6B Gene

Entrez Gene Summary for ATF6B Gene

  • The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for ATF6B Gene

ATF6B (Activating Transcription Factor 6 Beta) is a Protein Coding gene. Diseases associated with ATF6B include Kidney Fibrosarcoma and Achromatopsia 4. Among its related pathways are cGMP-PKG signaling pathway and Myometrial Relaxation and Contraction Pathways. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is ATF6.

UniProtKB/Swiss-Prot Summary for ATF6B Gene

  • [Cyclic AMP-dependent transcription factor ATF-6 beta]: Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 beta), which is embedded in the endoplasmic reticulum membrane (PubMed:11256944). 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:11256944).
  • [Processed cyclic AMP-dependent transcription factor ATF-6 beta]: Transcription factor that acts in the unfolded protein response (UPR) pathway by activating UPR target genes induced during ER stress (PubMed:11256944). Binds DNA on the 5'-CCAC[GA]-3' half of the ER stress response element (ERSE) (5'-CCAATN(9)CCAC[GA]-3') when NF-Y is bound to ERSE (PubMed:11256944).

Gene Wiki entry for ATF6B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATF6B Gene

Genomics for ATF6B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATF6B 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 ATF6B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATF6B

Top Transcription factor binding sites by QIAGEN in the ATF6B gene promoter:
  • AREB6
  • CUTL1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • RFX1
  • SRF
  • SRF (504 AA)

Genomic Locations for ATF6B Gene

Latest Assembly
chr6:32,115,264-32,128,253
(GRCh38/hg38)
Size:
12,990 bases
Orientation:
Minus strand

Previous Assembly
chr6:32,083,041-32,096,023
(GRCh37/hg19 by Entrez Gene)
Size:
12,983 bases
Orientation:
Minus strand

chr6:32,065,953-32,096,030
(GRCh37/hg19 by Ensembl)
Size:
30,078 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr6(ALT_REF_LOCI_2):3,553,597-3,566,577 (-)
  • chr6(ALT_REF_LOCI_3):3,356,630-3,369,610 (-)
  • chr6(ALT_REF_LOCI_5):3,457,284-3,470,266 (-)

Genomic View for ATF6B Gene

Genes around ATF6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATF6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATF6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATF6B Gene

Proteins for ATF6B Gene

  • Protein details for ATF6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99941-ATF6B_HUMAN
    Recommended name:
    Cyclic AMP-dependent transcription factor ATF-6 beta
    Protein Accession:
    Q99941
    Secondary Accessions:
    • B0UYX6
    • Q13269
    • Q14343
    • Q14345
    • Q5SSW7
    • Q99635
    • Q99637
    • Q9H3V9
    • Q9H3W1
    • Q9NPL0

    Protein attributes for ATF6B Gene

    Size:
    703 amino acids
    Molecular mass:
    76709 Da
    Quaternary structure:
    • [Processed cyclic AMP-dependent transcription factor ATF-6 beta]: Homodimer and heterodimer with ATF6-alpha. The dimer interacts with the nuclear transcription factor Y (NF-Y) trimer through direct binding to NF-Y subunit C (NF-YC).
    SequenceCaution:
    • Sequence=AAC50888.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAG14898.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for ATF6B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATF6B Gene

Post-translational modifications for ATF6B Gene

  • N-glycosylated.
  • During unfolded protein response, a fragment of approximately 60 kDa containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage is probably performed sequentially by site-1 (MBTPS1, S1P) and site-2 (MBTPS2, S2P) proteases.
  • Glycosylation at Asn476, Asn505, Asn610, Asn627, and Asn676
  • Ubiquitination at Lys305
  • Modification sites at PhosphoSitePlus

Other Protein References for ATF6B Gene

No data available for DME Specific Peptides for ATF6B Gene

Domains & Families for ATF6B Gene

Gene Families for ATF6B Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transcription factors

Protein Domains for ATF6B Gene

InterPro:
Blocks:
  • bZIP transcription factor, bZIP_1

Suggested Antigen Peptide Sequences for ATF6B Gene

GenScript: Design optimal peptide antigens:
  • cAMP responsive element binding protein-like 1 (A2ABC6_HUMAN)
  • cAMP-responsive element-binding protein-like 1 (ATF6B_HUMAN)
  • Activating transcription factor 6 beta (Q6AZW6_HUMAN)
  • cAMP responsive element binding protein-like 1 (Q96QL7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99941

UniProtKB/Swiss-Prot:

ATF6B_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.
genes like me logo Genes that share domains with ATF6B: view

Function for ATF6B Gene

Molecular function for ATF6B Gene

UniProtKB/Swiss-Prot Function:
[Cyclic AMP-dependent transcription factor ATF-6 beta]: Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 beta), which is embedded in the endoplasmic reticulum membrane (PubMed:11256944). 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:11256944).
UniProtKB/Swiss-Prot Function:
[Processed cyclic AMP-dependent transcription factor ATF-6 beta]: Transcription factor that acts in the unfolded protein response (UPR) pathway by activating UPR target genes induced during ER stress (PubMed:11256944). Binds DNA on the 5'-CCAC[GA]-3' half of the ER stress response element (ERSE) (5'-CCAATN(9)CCAC[GA]-3') when NF-Y is bound to ERSE (PubMed:11256944).

Phenotypes From GWAS Catalog for ATF6B Gene

Gene Ontology (GO) - Molecular Function for ATF6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 11256944
GO:0000978 contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding IDA 11256944
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 contributes_to DNA-binding transcription activator activity, RNA polymerase II-specific IDA 14973138
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with ATF6B: view
genes like me logo Genes that share phenotypes with ATF6B: view

Animal Models for ATF6B Gene

MGI Knock Outs for ATF6B:
  • Atf6b Atf6b<tm1Kamo>
  • Atf6b Atf6b<tm1.1(KOMP)Vlcg>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATF6B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATF6B Gene

Localization for ATF6B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATF6B Gene

Endoplasmic reticulum membrane. Single-pass type II membrane protein.
[Processed cyclic AMP-dependent transcription factor ATF-6 beta]: Nucleus. Note=Under ER stress the cleaved N-terminal cytoplasmic domain translocates into the nucleus. {ECO:0000269 PubMed:11256944}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATF6B gene
Compartment Confidence
nucleus 5
golgi apparatus 4
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATF6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,IDA 11256944
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA 11256944
GO:0005794 Golgi apparatus TAS 22013210
genes like me logo Genes that share ontologies with ATF6B: view

Pathways & Interactions for ATF6B Gene

genes like me logo Genes that share pathways with ATF6B: view

SIGNOR curated interactions for ATF6B Gene

Activates:

Gene Ontology (GO) - Biological Process for ATF6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA,IBA 21873635
GO:0006986 response to unfolded protein IEA --
GO:0007165 signal transduction TAS 8586413
GO:0030968 endoplasmic reticulum unfolded protein response IEA,IBA 21873635
genes like me logo Genes that share ontologies with ATF6B: view

Drugs & Compounds for ATF6B Gene

(1) Drugs for ATF6B Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ATF6B: view

Transcripts for ATF6B Gene

mRNA/cDNA for ATF6B Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATF6B

Alternative Splicing Database (ASD) splice patterns (SP) for ATF6B Gene

No ASD Table

Relevant External Links for ATF6B Gene

GeneLoc Exon Structure for
ATF6B

Expression for ATF6B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATF6B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATF6B Gene

This gene is overexpressed in Serum (65.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATF6B Gene



Protein tissue co-expression partners for ATF6B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATF6B

SOURCE GeneReport for Unigene cluster for ATF6B Gene:

Hs.42853

mRNA Expression by UniProt/SwissProt for ATF6B Gene:

Q99941-ATF6B_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ATF6B: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATF6B Gene

Orthologs for ATF6B Gene

This gene was present in the common ancestor of animals.

Orthologs for ATF6B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATF6B 29 30
  • 98.86 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATF6B 29 30
  • 88.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATF6B 29 30
  • 87.78 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atf6b 29 16 30
  • 86.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atf6b 29
  • 85.98 (n)
Oppossum
(Monodelphis domestica)
Mammalia ATF6B 30
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 69 (a)
OneToMany
-- 30
  • 60 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia ATF6B 30
  • 43 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atf6b 29
  • 52.93 (n)
Str.19591 29
Zebrafish
(Danio rerio)
Actinopterygii atf6b 29
  • 55.51 (n)
ATF6B 30
  • 36 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Atf6 30
  • 18 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 24 (a)
OneToMany
Species where no ortholog for ATF6B 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)
  • Chicken (Gallus gallus)
  • 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 ATF6B Gene

ENSEMBL:
Gene Tree for ATF6B (if available)
TreeFam:
Gene Tree for ATF6B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATF6B: view image
Alliance of Genome Resources:
Additional Orthologs for ATF6B

Paralogs for ATF6B Gene

Paralogs for ATF6B Gene

(3) SIMAP similar genes for ATF6B Gene using alignment to 4 proteins:

  • ATF6B_HUMAN
  • H0Y7D7_HUMAN
  • Q6AZW6_HUMAN
  • Q96QL7_HUMAN
genes like me logo Genes that share paralogs with ATF6B: view

Variants for ATF6B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATF6B Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs147955878 Likely Benign: not provided 32,116,560(-) T/A
NM_004381.5(ATF6B):c.1802A>T (p.His601Leu)
MISSENSE
rs200717869 Benign: not provided 32,117,315(-) C/T
NM_004381.5(ATF6B):c.1614+8G>A
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATF6B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ATF6B Gene

Variant ID Type Subtype PubMed ID
dgv10404n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
dgv10472n54 CNV loss 21841781
esv2759415 CNV gain+loss 17122850
nsv1028506 CNV gain 25217958
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv428141 CNV gain+loss 18775914
nsv602104 CNV loss 21841781
nsv830629 CNV loss 17160897

Variation tolerance for ATF6B Gene

Residual Variation Intolerance Score: 50.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATF6B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATF6B
Leiden Open Variation Database (LOVD)
ATF6B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATF6B Gene

Disorders for ATF6B Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATF6B Gene - From: COP

Disorder Aliases PubMed IDs
kidney fibrosarcoma
  • fibrosarcoma of the kidney
achromatopsia 4
  • achm4
- elite association - COSMIC cancer census association via MalaCards
Search ATF6B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ATF6B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ATF6B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATF6B Gene

Publications for ATF6B Gene

  1. Identification of the G13 (cAMP-response-element-binding protein-related protein) gene product related to activating transcription factor 6 as a transcriptional activator of the mammalian unfolded protein response. (PMID: 11256944) Haze K … Mori K (The Biochemical journal 2001) 2 3 4 22
  2. Opposing roles for ATF6alpha and ATF6beta in endoplasmic reticulum stress response gene induction. (PMID: 14973138) Thuerauf DJ … Glembotski CC (The Journal of biological chemistry 2004) 2 3 22
  3. Alternate promoters and alternate splicing of human tenascin-X, a gene with 5' and 3' ends buried in other genes. (PMID: 8923003) Speek M … Miller WL (Human molecular genetics 1996) 3 4 22
  4. The gene G13 in the class III region of the human MHC encodes a potential DNA-binding protein. (PMID: 8870652) Khanna A … Campbell RD (The Biochemical journal 1996) 3 4 22
  5. A novel Creb family gene telomeric of HLA-DRA in the HLA complex. (PMID: 8586413) Min J … Chaplin DD (Genomics 1995) 3 4 22

Products for ATF6B Gene