HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CGREF1
cell growth regulator with EF-hand domain 1
Chromosome 2 · 2p23.3
NCBI Gene: 10669Ensembl: ENSG00000138028.17HGNC: HGNC:16962UniProt: Q99674
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnegative regulation of cell population proliferationcalcium ion bindingextracellular regionrisk-taking behaviourattention deficit hyperactivity disorderosteoarthritis, hipLimb pain
✦AI Summary

CGREF1 (Cell Growth Regulator with EF-hand domain 1) is a secreted protein that functions as a multifaceted regulator with both metabolic and oncogenic properties. As a hepatokine, CGREF1 is regulated by transcription factor CREB-H and primarily targets epididymal white adipose tissue, where it suppresses insulin signaling and glucose uptake, potentially contributing to insulin resistance and metabolic dysfunction-associated steatotic liver disease 1. In cancer contexts, CGREF1 demonstrates oncogenic properties across multiple malignancies. In osteosarcoma, CGREF1 promotes cell proliferation by modulating the cell cycle through activation of the Wnt/β-catenin signaling pathway via GSK3/β-catenin regulation 2. Similarly, in hepatocellular carcinoma, CGREF1 facilitates proliferation, migration, and invasion through the EIF3H/Wnt/β-catenin signaling axis 3. In colorectal cancer, CGREF1 specifically promotes cell migration and invasion without affecting proliferation, correlating with aggressive tumor characteristics and poor prognosis 4. The protein has also been implicated in cisplatin resistance in osteosarcoma 5 and associated with schizophrenia susceptibility through rare coding variants 6. Additionally, CGREF1 shows associations with brain glymphatic system function 7.

Sources cited
1
CGREF1 functions as a CREB-H-regulated hepatokine that targets adipose tissue and suppresses insulin signaling
PMID: 40303310
2
CGREF1 promotes osteosarcoma cell proliferation through Wnt/β-catenin signaling pathway
PMID: 39707194
3
CGREF1 facilitates hepatocellular carcinoma progression via EIF3H/Wnt/β-catenin signaling axis
PMID: 40069645
4
CGREF1 promotes colorectal cancer cell migration and correlates with poor prognosis
PMID: 41125935
5
CGREF1 contributes to cisplatin resistance in osteosarcoma
PMID: 36408691
6
CGREF1 rare coding variants are associated with schizophrenia susceptibility
PMID: 40753099
7
CGREF1 is associated with brain glymphatic system function
PMID: 41351017
Disease Associationsⓘ20
risk-taking behaviourOpen Targets
0.33Weak
attention deficit hyperactivity disorderOpen Targets
0.25Weak
osteoarthritis, hipOpen Targets
0.24Weak
Limb painOpen Targets
0.23Weak
osteoarthritis, kneeOpen Targets
0.23Weak
musculoskeletal system diseaseOpen Targets
0.22Weak
HeadacheOpen Targets
0.22Weak
essential fructosuriaOpen Targets
0.19Weak
mathematical abilityOpen Targets
0.19Weak
Abdominal painOpen Targets
0.19Weak
anxiety disorderOpen Targets
0.15Weak
smoking cessationOpen Targets
0.14Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
endometriosisOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.06Suggestive
Griscelli diseaseOpen Targets
0.05Suggestive
pentosuriaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POU1F1Shared pathway100%THAP12Shared pathway100%RARRES1Shared pathway100%TP53I11Shared pathway100%ZBTB7CShared pathway100%TESShared pathway100%
Tissue Expression6 tissues
Ovary
100%
Liver
87%
Brain
48%
Bone Marrow
28%
Heart
8%
Lung
3%
Gene Interaction Network
Click a node to explore
CGREF1POU1F1THAP12RARRES1TP53I11ZBTB7CTES
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q99674
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.61–1.36]
RankingsWhere CGREF1 stands among ~20K protein-coding genes
  • #15,226of 20,598
    Most Researched16
  • #14,244of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedCGREF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cgref1 is a CREB-H-regulated hepatokine that promotes hepatic
PMID: 40303310
Int J Biol Sci · 2025
1.00
2
Whole-exome sequencing analysis identifies risk genes for schizophrenia.
PMID: 40753099
Nat Commun · 2025
0.90
3
CGREF1 modulates osteosarcoma proliferation by regulating the cell cycle through the Wnt/β-catenin signaling pathway.
PMID: 39707194
Mol Med · 2024
0.80
4
CGREF1 promotes cancer cell migration and predicts poor prognosis in colorectal cancer.
PMID: 41125935
J Cancer Res Clin Oncol · 2025
0.70
5
CGREF1 facilitates the cell proliferation, migration and invasion of hepatocellular carcinoma cells via regulation of EIF3H/ Wnt/β-Catenin signaling axis.
PMID: 40069645
BMC Cancer · 2025
0.60