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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CREB3L3
cAMP responsive element binding protein 3 like 3
Chromosome 19 · 19p13.3
NCBI Gene: 84699Ensembl: ENSG00000060566.15HGNC: HGNC:18855UniProt: Q68CJ9
32PubMed Papers
21Diseases
0Drugs
18Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IItranscription cis-regulatory region bindingresponse to endoplasmic reticulum stressRNA polymerase II transcription regulatory region sequence-specific DNA bindinghypertriglyceridemia 2neurodegenerative diseaseHypertriglyceridemiaHyperlipoproteinemia type 4
✦AI Summary

CREB3L3 is a transcription factor that primarily regulates hepatic lipid metabolism and maintains normal plasma triglyceride concentrations 1. As a member of the CREB3 family, CREB3L3 is activated during endoplasmic reticulum stress through regulated intramembrane proteolysis and responds to cAMP stimulation by binding cAMP response elements (CRE) and box-B elements to activate target gene transcription 2. In the liver, CREB3L3 works synergistically with PPARα to regulate fatty acid oxidation and ketogenesis during fasting, with distinct but complementary roles: CREB3L3 primarily controls apolipoprotein metabolism while PPARα governs intracellular lipid metabolism 3. CREB3L3 also regulates FGF21 transcription as part of a CREBH-FGF21 signaling axis that reduces hepatic steatosis 4. Beyond hepatic function, CREB3L3 is expressed in adipose tissue where it modulates body weight and metabolic health; its adipose-specific overexpression reduces diet-induced obesity and improves insulin sensitivity 5. Clinically, CREB3L3 mutations are associated with hypertriglyceridemia type 2 1. Additionally, CREB3L3 fusions with EWSR1 occur in sclerosing epithelioid fibrosarcoma and rare intracranial mesenchymal tumors 67.

Sources cited
1
CREB3L3 plays a crucial role in regulating triglyceride metabolism and is required for maintenance of normal plasma triglyceride concentrations; mutations associated with hypertriglyceridemia 2
PMID: 21666694
2
CREB3L3 is activated during endoplasmic reticulum stress through regulated intramembrane proteolysis and controls cellular protein metabolism in response to unfolded protein reactions
PMID: 37595431
3
CREB3L3 and PPARα have distinct roles in hepatic lipid metabolism with limited interdependence; CREB3L3 regulates apolipoprotein metabolism while PPARα controls intracellular lipid metabolism during fasting
PMID: 30866796
4
CREB3L3 (as CREBH) regulates FGF21 transcription as part of a CREBH-FGF21 axis that reduces hepatic fat accumulation
PMID: 39019116
5
CREB3L3 is expressed in adipose tissue and modulates body weight; adipose-specific overexpression reduces diet-induced obesity and improves metabolic dysfunction
PMID: 34588527
6
CREB3L3 fusions with EWSR1 and FUS occur in sclerosing epithelioid fibrosarcoma
PMID: 38278601
7
EWSR1::CREB3L3 fusion occurs in rare intracranial mesenchymal tumors
PMID: 38291529
8
CREB3L3 supports PPARα-mediated induction of hepatic fatty acid oxidation and ketogenesis during fasting
PMID: 37940485
Disease Associationsⓘ21
hypertriglyceridemia 2Open Targets
0.74Strong
neurodegenerative diseaseOpen Targets
0.51Moderate
HypertriglyceridemiaOpen Targets
0.46Moderate
Hyperlipoproteinemia type 4Open Targets
0.40Weak
Alzheimer diseaseOpen Targets
0.39Weak
Parkinson diseaseOpen Targets
0.39Weak
lysosomal storage diseaseOpen Targets
0.39Weak
multiple sclerosisOpen Targets
0.39Weak
transient infantile hypertriglyceridemia and hepatosteatosisOpen Targets
0.37Weak
episodic kinesigenic dyskinesia 1Open Targets
0.27Weak
familial lipoprotein lipase deficiencyOpen Targets
0.17Weak
agingOpen Targets
0.15Weak
ArthropathyOpen Targets
0.12Weak
lacrimal apparatus diseaseOpen Targets
0.12Weak
obesityOpen Targets
0.07Suggestive
Barrett's esophagusOpen Targets
0.07Suggestive
atherosclerosisOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
Crohn's diseaseOpen Targets
0.05Suggestive
Insulin resistanceOpen Targets
0.05Suggestive
Hypertriglyceridemia 2UniProt
Pathogenic Variants18
NM_032607.3(CREB3L3):c.610C>T (p.Arg204Ter)Pathogenic
not provided
★★☆☆2025→ Residue 204
NM_032607.3(CREB3L3):c.138G>A (p.Trp46Ter)Pathogenic
Hypertriglyceridemia 2|not provided
★★☆☆2025→ Residue 46
NM_032607.3(CREB3L3):c.523C>T (p.Arg175Ter)Pathogenic
not provided
★★☆☆2023→ Residue 175
NM_032607.3(CREB3L3):c.603C>A (p.Tyr201Ter)Pathogenic
not provided
★☆☆☆2026→ Residue 201
NM_032607.3(CREB3L3):c.717C>G (p.Tyr239Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 239
NM_032607.3(CREB3L3):c.632_633del (p.Gln211fs)Pathogenic
not provided
★☆☆☆2025→ Residue 211
NM_032607.3(CREB3L3):c.457G>T (p.Glu153Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 153
NM_032607.3(CREB3L3):c.478_481del (p.Arg160fs)Pathogenic
not provided
★☆☆☆2025→ Residue 160
NM_032607.3(CREB3L3):c.724C>T (p.Arg242Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 242
NM_032607.3(CREB3L3):c.577C>T (p.Gln193Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 193
NM_032607.3(CREB3L3):c.577-2A>GLikely pathogenic
not provided
★☆☆☆2023
NM_032607.3(CREB3L3):c.306dup (p.Arg103fs)Pathogenic
not provided
★☆☆☆2023→ Residue 103
NM_032607.3(CREB3L3):c.739del (p.Ile247fs)Pathogenic
not provided
★☆☆☆2023→ Residue 247
NM_032607.3(CREB3L3):c.241del (p.Ser81fs)Pathogenic
not provided
★☆☆☆2022→ Residue 81
NM_032607.3(CREB3L3):c.130G>T (p.Glu44Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 44
NM_032607.3(CREB3L3):c.891-2A>GLikely pathogenic
not provided
★☆☆☆2021
NM_032607.3(CREB3L3):c.577-1G>ALikely pathogenic
not provided
★☆☆☆2019
NM_032607.3(CREB3L3):c.363del (p.Cys123fs)Pathogenic
Hypertriglyceridemia 2
☆☆☆☆2025→ Residue 123
View on ClinVar ↗
Related Genes
CREB1Protein interaction97%CREB3Protein interaction96%MBTPS2Protein interaction95%CREB3L1Protein interaction95%PPARGC1AProtein interaction95%MBTPS1Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
0%
Brain
0%
Lung
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CREB3L3CREB1CREB3MBTPS2CREB3L1PPARGC1AMBTPS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q68CJ9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.66–1.16]
RankingsWhere CREB3L3 stands among ~20K protein-coding genes
  • #11,490of 20,598
    Most Researched32
  • #2,301of 5,498
    Most Pathogenic Variants18
  • #12,049of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedCREB3L3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mechanisms of hepatic fatty acid oxidation and ketogenesis during fasting.
PMID: 37940485
Trends Endocrinol Metab · 2024
1.00
2
Sclerosing Epithelioid Fibrosarcoma.
PMID: 38278601
Surg Pathol Clin · 2024
0.90
3
PPAR
PMID: 39664413
Acta Pharm Sin B · 2024
0.80
4
Regulatory mechanisms of the cAMP-responsive element binding protein 3 (CREB3) family in cancers.
PMID: 37595431
Biomed Pharmacother · 2023
0.70
5
Transcriptional profiling of PPARα-/- and CREB3L3-/- livers reveals disparate regulation of hepatoproliferative and metabolic functions of PPARα.
PMID: 30866796
BMC Genomics · 2019
0.60