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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CREBRF
CREB3 regulatory factor
Chromosome 5 · 5q35.1
NCBI Gene: 153222Ensembl: ENSG00000164463.13HGNC: HGNC:24050UniProt: Q8IUR6
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription FactorTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIRNA polymerase II transcription regulatory region sequence-specific DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificnucleoplasmatrial fibrillationglaucomaopen-angle glaucomaacute myeloid leukemia
✦AI Summary

CREBRF (CREB3 regulatory factor) functions as a negative regulator of endoplasmic reticulum stress response and the unfolded protein response (UPR) by repressing CREB3 transcriptional activity 1. The gene encodes a DNA-binding transcription factor that recruits CREB3 into nuclear foci and regulates RNA polymerase II-mediated transcription. Mechanistically, CREBRF modulates multiple cellular pathways including ER stress, cell cycle regulation, and autophagy 1. In cancer contexts, CREBRF promotes cell proliferation through AKT signaling pathway activation, with CREBRF silencing inducing G1/S phase cell cycle arrest in gastric cancer cells 2. CREBRF also influences cervical cancer progression via the miR-545-3p/CREBRF regulatory axis 3. Disease relevance extends to metabolic disorders and cancer. CREBRF variants (rs12513649 and rs373863828) show paradoxical associations in Polynesian and Pacific Islander populations: the protective alleles associate with increased BMI and reduced type 2 diabetes risk, plus greater adult height 456. Large-scale lipid GWAS identified CREBRF as a prioritized gene with convergent functional evidence supporting its role in lipid biology 7. Clinically, CREBRF emerges as a potential therapeutic target in cancer treatment given its roles in tumor proliferation and survival pathways.

Sources cited
1
CREBRF regulates ER stress and UPR, cell cycle, autophagy, and is involved in tumorigenesis
PMID: 40463837
2
CREBRF promotes gastric cancer cell proliferation via AKT signaling and G1/S phase transition
PMID: 29729692
3
CREBRF is modulated by miR-545-3p in cervical cancer progression
PMID: 38850307
4
CREBRF variants associated with higher BMI and lower diabetes risk in Pacific Islander populations
PMID: 31280340
5
CREBRF protective allele associated with increased adult height in Māori and Pacific adults
PMID: 31543511
6
CREBRF rs373863828 A allele replicates association with higher BMI but lower type 2 diabetes odds
PMID: 29721634
7
CREBRF prioritized as candidate causal gene in lipid biology through functional genomic analysis
PMID: 35931049
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.22Weak
glaucomaOpen Targets
0.12Weak
open-angle glaucomaOpen Targets
0.12Weak
acute myeloid leukemiaOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.06Suggestive
head and neck squamous cell carcinomaOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
autismOpen Targets
0.04Suggestive
autism spectrum disorderOpen Targets
0.04Suggestive
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyOpen Targets
0.04Suggestive
15q11q13 microduplication syndromeOpen Targets
0.04Suggestive
obesity due to leptin receptor gene deficiencyOpen Targets
0.04Suggestive
gestational diabetesOpen Targets
0.04Suggestive
infantile hypertrophic pyloric stenosisOpen Targets
0.04Suggestive
paroxysmal tachycardiaOpen Targets
0.03Suggestive
nephrolithiasisOpen Targets
0.03Suggestive
X-linked intellectual disability, van Esch typeOpen Targets
0.03Suggestive
familial hyperthyroidism due to mutations in TSH receptorOpen Targets
0.03Suggestive
obesity due to pro-opiomelanocortin deficiencyOpen Targets
0.03Suggestive
hypothyroidism, congenital, nongoitrous, 7Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HSPB3Shared pathway100%KLHL24Protein interaction76%CREB3Protein interaction75%CREB3L4Protein interaction75%CREBL2Protein interaction72%SERPINH1Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
56%
Lung
51%
Ovary
50%
Brain
35%
Liver
34%
Gene Interaction Network
Click a node to explore
CREBRFHSPB3KLHL24CREB3CREB3L4CREBL2SERPINH1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IUR6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.17Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.08 [0.04–0.17]
RankingsWhere CREBRF stands among ~20K protein-coding genes
  • #10,299of 20,598
    Most Researched39
  • #308of 17,882
    Most Constrained (LOEUF)0.17 · top 5%
Genes detectedCREBRF
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
PMID: 35931049
Am J Hum Genet · 2022
1.00
2
Targeting CREBRF in Cancer: Mechanistic Insights and Future Directions.
PMID: 40463837
Biologics · 2025
0.90
3
Association of CREBRF variants with obesity and diabetes in Pacific Islanders from Guam and Saipan.
PMID: 31280340
Diabetologia · 2019
0.80
4
The Māori and Pacific specific CREBRF variant and adult height.
PMID: 31543511
Int J Obes (Lond) · 2020
0.70
5
Discordant association of the CREBRF rs373863828 A allele with increased BMI and protection from type 2 diabetes in Māori and Pacific (Polynesian) people living in Aotearoa/New Zealand.
PMID: 29721634
Diabetologia · 2018
0.60