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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CREB3L2
cAMP responsive element binding protein 3 like 2
Chromosome 7 · 7q33
NCBI Gene: 64764Ensembl: ENSG00000182158.17HGNC: HGNC:23720UniProt: Q70SY1
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription cis-regulatory region bindingcAMP response element bindingresponse to endoplasmic reticulum stresspositive regulation of DNA-templated transcriptionAbnormality of the skeletal systemleiomyosarcomamyxofibrosarcomawell-differentiated liposarcoma
✦AI Summary

CREB3L2 is a transmembrane transcription factor that plays critical roles in the unfolded protein response (UPR) and cellular stress adaptation. Under normal conditions, CREB3L2 resides in the endoplasmic reticulum (ER) membrane with its DNA-binding domain facing the cytoplasm 1. Upon ER stress, it undergoes regulated intramembrane proteolysis and translocates to the nucleus to activate target gene transcription. CREB3L2 demonstrates significant pathological relevance through chr7 translocations, particularly the FUS-CREB3L2 fusion in low-grade fibromyxoid sarcoma (LGFMS), which drives tumorigenesis by aberrant phase separation and remodeling of ER membranes 1. This fusion protein activates hundreds of LGFMS-specific genes including CD24 and MUC4 2. In hepatocellular carcinoma, CREB3L2 promotes tumor progression and lenvatinib resistance by upregulating SREBP1-mediated lipid metabolism through HAT1-dependent mechanisms 3. Additionally, CREB3L2 forms heterodimers with ATF4 in neurons, contributing to transcriptional dysregulation in Alzheimer's disease pathology, where proteasome inhibition by Aβ42 increases CREB3L2 levels 4. These diverse functions highlight CREB3L2's importance in both normal cellular homeostasis and disease pathogenesis.

Sources cited
1
CREB3L2 resides in ER membrane and FUS-CREB3L2 fusion drives LGFMS through aberrant phase separation
PMID: 40273917
2
FUS-CREB3L2 fusion activates LGFMS-specific genes including CD24 and MUC4
PMID: 21536545
3
CREB3L2 promotes HCC progression and lenvatinib resistance via SREBP1-mediated lipid metabolism
PMID: 41285809
4
CREB3L2 forms heterodimers with ATF4 in neurons and contributes to Alzheimer's disease pathology
PMID: 40164587
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.54Moderate
leiomyosarcomaOpen Targets
0.37Weak
myxofibrosarcomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
congenital fibrosarcomaOpen Targets
0.37Weak
cutaneous fibrous histiocytomaOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
lipomaOpen Targets
0.37Weak
lung carcinomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
malignant peripheral nerve sheath tumorOpen Targets
0.37Weak
myxomaOpen Targets
0.37Weak
neurofibromaOpen Targets
0.37Weak
nodular fasciitisOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
synovial sarcomaOpen Targets
0.37Weak
undifferentiated pleomorphic sarcomaOpen Targets
0.37Weak
well-differentiated liposarcomaOpen Targets
0.37Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPARGC1AProtein interaction95%CRTC2Protein interaction94%ATF1Protein interaction94%ATF4Protein interaction94%CAMK4Protein interaction94%CREB1Protein interaction94%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
77%
Lung
74%
Heart
60%
Liver
44%
Brain
27%
Gene Interaction Network
Click a node to explore
CREB3L2PPARGC1ACRTC2ATF1ATF4CAMK4CREB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q70SY1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.45 [0.32–0.65]
RankingsWhere CREB3L2 stands among ~20K protein-coding genes
  • #9,988of 20,598
    Most Researched41
  • #4,640of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedCREB3L2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Aberrant phase separation drives membranous organelle remodeling and tumorigenesis.
PMID: 40273917
Mol Cell · 2025
1.00
2
Sclerosing Epithelioid Fibrosarcoma.
PMID: 38278601
Surg Pathol Clin · 2024
0.90
3
Integrating RNA-seq and scRNA-seq to explore the biological significance of NAD + metabolism-related genes in the initial diagnosis and relapse of childhood B-cell acute lymphoblastic leukemia.
PMID: 36439178
Front Immunol · 2022
0.80
4
Targeting CREB3L2-mediated lipid metabolism overcomes lenvatinib resistance and attenuates the progression of hepatocellular carcinoma.
PMID: 41285809
Cell Death Dis · 2025
0.70
5
FUS-CREB3L2/L1-positive sarcomas show a specific gene expression profile with upregulation of CD24 and FOXL1.
PMID: 21536545
Clin Cancer Res · 2011
0.60