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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CER1
cerberus 1, DAN family BMP antagonist
Chromosome 9 · 9p22.3
NCBI Gene: 9350Ensembl: ENSG00000147869.5HGNC: HGNC:1862UniProt: O95813
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nervous system developmentprotein sequestering activitynegative regulation of activin receptor signaling pathwayreceptor ligand inhibitor activityalcohol drinkingKallmann syndromebreast diseaseAbnormality of the skeletal system
✦AI Summary

CER1 (cerberus 1) is a secreted antagonist of bone morphogenetic protein (BMP) and Nodal signaling pathways that plays critical roles in embryonic development and bone homeostasis. During early embryogenesis, CER1 inhibits BMP and Nodal signaling through receptor interactions with ACVR1B/ACVR1C and BMPR family members, respectively, to promote anterior neural induction and suppress non-neural differentiation 1. In human embryonic stem cells, CER1 expression is regulated by WNT and Nodal signaling pathways and marks commitment to endodermal lineages 12. LHX2 transcription factor promotes neural differentiation partly by upregulating CER1 to antagonize BMP and WNT signaling 3. Clinically, CER1 genetic variants are strongly associated with osteoporosis pathogenesis in postmenopausal women. Multiple CER1 polymorphisms correlate with reduced bone mineral density, elevated parathyroid hormone and calcitonin levels, and increased fracture risk 45. Notably, the c.507+506G>T polymorphism independently associates with hip and vertebral fractures, suggesting CER1 variations may serve as predictive markers for osteoporotic fracture risk 5. CER1 appears functionally conserved in primates for regulating early embryogenesis but shows evolutionary divergence from rodent orthologs 1.

Sources cited
1
CER1 inhibits NODAL and BMP signaling; is a common target of WNT and NODAL signaling in human ES cells; shows evolutionary conservation as target gene in primates
PMID: 16596263
2
CER1 variations significantly associate with BMD and altered bone turnover markers in postmenopausal osteoporotic women
PMID: 24138842
3
CER1 polymorphisms correlate with low BMD and increased vertebral and hip fracture risk; c.507+506G>T independently associates with fractures
PMID: 22543871
4
CER1 is a validated marker gene for endodermal differentiation in human iPSCs
PMID: 39358374
5
LHX2 regulates neural differentiation by promoting CER1 expression to inhibit BMP and WNT signaling and suppress non-neural differentiation
PMID: 23804753
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.39Weak
Kallmann syndromeOpen Targets
0.29Weak
breast diseaseOpen Targets
0.29Weak
Abnormality of the skeletal systemOpen Targets
0.19Weak
schizophreniaOpen Targets
0.17Weak
injuryOpen Targets
0.16Weak
ocular hypotensionOpen Targets
0.14Weak
attention deficit hyperactivity disorderOpen Targets
0.13Weak
substance abuseOpen Targets
0.13Weak
placental retentionOpen Targets
0.12Weak
hypertrophic cardiomyopathyOpen Targets
0.12Weak
mathematical abilityOpen Targets
0.12Weak
osteoarthritisOpen Targets
0.12Weak
HypercholesterolemiaOpen Targets
0.11Weak
cardiovascular diseaseOpen Targets
0.11Weak
restless legs syndromeOpen Targets
0.10Weak
central nervous system cancerOpen Targets
0.09Suggestive
hidradenitisOpen Targets
0.08Suggestive
anxiety disorderOpen Targets
0.06Suggestive
essential hypertensionOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
WNT3Protein interaction94%WNT10BProtein interaction94%WNT1Protein interaction93%WNT7BProtein interaction93%WNT2BProtein interaction92%WNT9BProtein interaction92%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
1%
Ovary
0%
Heart
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
CER1WNT3WNT10BWNT1WNT7BWNT2BWNT9B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O95813
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.45LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.59–1.45]
RankingsWhere CER1 stands among ~20K protein-coding genes
  • #12,753of 20,598
    Most Researched26
  • #14,864of 17,882
    Most Constrained (LOEUF)1.45
Genes detectedCER1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CER1 gene variations associated with bone mineral density, bone markers, and early menopause in postmenopausal women.
PMID: 24138842
Hum Genomics · 2013
1.00
2
CER1 is a common target of WNT and NODAL signaling pathways in human embryonic stem cells.
PMID: 16596263
Int J Mol Med · 2006
0.90
3
Novel sequence variations in the CER1 gene are strongly associated with low bone mineral density and risk of osteoporotic fracture in postmenopausal women.
PMID: 22543871
Calcif Tissue Int · 2012
0.80
4
Reassessment of marker genes in human induced pluripotent stem cells for enhanced quality control.
PMID: 39358374
Nat Commun · 2024
0.70
5
LHX2 regulates the neural differentiation of human embryonic stem cells via transcriptional modulation of PAX6 and CER1.
PMID: 23804753
Nucleic Acids Res · 2013
0.60