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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CREB3
cAMP responsive element binding protein 3
Chromosome 9 · 9p13.3
NCBI Gene: 10488Ensembl: ENSG00000107175.13HGNC: HGNC:2347UniProt: O43889
86PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specifictranscription coregulator bindingDNA-binding transcription activator activity, RNA polymerase II-specificSpastic paraplegiaAutosomal recessive spastic paraplegia type 46hereditary spastic paraplegia 46hereditary spastic paraplegia
✦AI Summary

CREB3 (cAMP responsive element binding protein 3) is a transcription factor that plays critical roles in cellular stress responses and disease pathogenesis. The protein functions as a DNA-binding transcription activator for RNA polymerase II and is activated through regulated intramembrane proteolysis in the endoplasmic reticulum membrane during ER stress conditions 1. CREB3 serves as a key regulator in the unfolded protein response and integrated stress response signaling pathways, with cellular localization spanning the cytosol, nucleus, endoplasmic reticulum, and Golgi apparatus. The protein exhibits significant disease relevance, particularly in cancer where CREB3 family members modulate tumor onset and progression 1. In anaplastic thyroid carcinoma, CREB3L1 promotes tumor growth and metastasis by remodeling the tumor microenvironment through extracellular matrix signaling activation 2. Notably, CREB3 shows protective effects in amyotrophic lateral sclerosis (ALS), where gain-of-function variants like CREB3R119G decrease ALS risk and slow motor progression 3. The protein also contributes to cardiovascular and metabolic disease regulation 4 and has been implicated in ciliopathy phenotypes 5. CREB3's therapeutic potential spans multiple disease contexts, from cancer treatment targets to neuroprotective strategies.

Sources cited
1
CREB3 family activation occurs through regulated intramembrane proteolysis during ER stress and members play indispensable roles in cancer onset and progression
PMID: 37595431
2
CREB3L1 promotes tumor growth and metastasis in anaplastic thyroid carcinoma by activating ECM signaling and remodeling tumor microenvironment
PMID: 36192735
3
CREB3 serves as a resilience marker in ALS and the variant CREB3R119G protects against ALS development and slows progression
PMID: 40140376
4
CREB3 family members are crucial in cardiovascular and metabolic disease development
PMID: 39581923
5
CREB3 genetic variants are associated with ciliopathy phenotypes
PMID: 41005307
Disease Associationsⓘ20
Spastic paraplegiaOpen Targets
0.52Moderate
Autosomal recessive spastic paraplegia type 46Open Targets
0.52Moderate
hereditary spastic paraplegia 46Open Targets
0.52Moderate
hereditary spastic paraplegiaOpen Targets
0.45Moderate
Neurodevelopmental disorderOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.32Weak
genetic disorderOpen Targets
0.19Weak
breast ductal adenocarcinomaOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
prostate cancerOpen Targets
0.08Suggestive
osteoporosisOpen Targets
0.08Suggestive
glioblastomaOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
osteosarcomaOpen Targets
0.05Suggestive
CIDEC-related familial partial lipodystrophyOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
JUNProtein interaction100%NR0B2Protein interaction99%CREBZFProtein interaction97%DCSTAMPProtein interaction96%ATF1Protein interaction96%ATF4Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Liver
85%
Lung
81%
Ovary
78%
Heart
69%
Bone Marrow
35%
Gene Interaction Network
Click a node to explore
CREB3JUNNR0B2CREBZFDCSTAMPATF1ATF4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O43889
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.64–1.15]
RankingsWhere CREB3 stands among ~20K protein-coding genes
  • #5,536of 20,598
    Most Researched86
  • #11,896of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedCREB3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CREB3L1 promotes tumor growth and metastasis of anaplastic thyroid carcinoma by remodeling the tumor microenvironment.
PMID: 36192735
Mol Cancer · 2022
1.00
2
Regulatory mechanisms of the cAMP-responsive element binding protein 3 (CREB3) family in cancers.
PMID: 37595431
Biomed Pharmacother · 2023
0.90
3
CREB3 protein family: the promising therapeutic targets for cardiovascular and metabolic diseases.
PMID: 39581923
Cell Biol Toxicol · 2024
0.80
4
Intrinsic heterogeneity of primary cilia revealed through spatial proteomics.
PMID: 41005307
Cell · 2025
0.70
5
CREB3 gain of function variants protect against ALS.
PMID: 40140376
Nat Commun · 2025
0.60