CER1

Chr 9

cerberus 1, DAN family BMP antagonist

Also known as: DAND4

NCBI Gene: 9350ENSG00000147869UniProt: O95813

This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity. [provided by RefSeq, Jul 2008]

160
ClinVar variants
107
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— CER1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
107 Pathogenic / Likely Pathogenic· 45 VUS of 160 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.80LOEUF
pLI 0.000
Z-score -0.15
OE 1.06 (0.60–1.80)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-1.64Z-score
OE missense 1.38 (1.23–1.55)
203 obs / 147.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.06 (0.60–1.80)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.38 (1.23–1.55)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.26
0≤1.21.6
LoF obs/exp: 7 / 6.6Missense obs/exp: 203 / 147.1Syn Z: -1.55

ClinVar Variant Classifications

160 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic100
Likely Pathogenic7
VUS45
Likely Benign5
100
Pathogenic
7
Likely Pathogenic
45
VUS
5
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
100
0
100
Likely Pathogenic
0
0
7
0
7
VUS
0
40
5
0
45
Likely Benign
0
4
0
1
5
Benign
0
0
0
0
0
Total0441121157

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CER1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.
Jehee FS et al.·Cleft Palate Craniofac J
2006Cohort
Genome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in southern Chinese women.
Tang PL et al.·J Bone Miner Res
2009
Novel sequence variations in the CER1 gene are strongly associated with low bone mineral density and risk of osteoporotic fracture in postmenopausal women.
Koromila T et al.·Calcif Tissue Int
2012
Coordinate Nodal and BMP inhibition directs Baf60c-dependent cardiomyocyte commitment.
Cai W et al.·Genes Dev
2013
Alteration to the Skin Ceramide Profile Following Broad-Spectrum UV Exposure.
Barresi R et al.·J Drugs Dermatol
2022
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.
Swinkels ME et al.·Am J Med Genet A
2008Cohort
A Brief Overview of the Toxic Sphingomyelinase Ds of Brown Recluse Spider Venom and Other Organisms and Simple Methods To Detect Production of Its Signature Cyclic Ceramide Phosphate.
Lachmayr H et al.·Mol Pharmacol
2024Review
[Value of ceramide in the diagnosis and risk prediction of coronary artery disease].
Tu CC et al.·Zhonghua Yi Xue Za Zhi
2019
Ring chromosome formation by intra-strand repairing of subtelomeric double stand breaks and clinico-cytogenomic correlations for ring chromosome 9.
Chai H et al.·Am J Med Genet A
2020Case report
Two independent mechanisms for escaping epidermal growth factor-mediated growth inhibition in epidermal growth factor receptor-hyperproducing human tumor cells.
Hirai M et al.·J Cell Biol
1988Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Comparative Genomic Analysis and Functional Identification of CER1 and CER3 Homologs in Rice Wax Synthesis.
Youssif NEE et al.·Biology (Basel)
2026🔓 Open AccessFunctional
CER1 as a manganese ion metabolism gene drives gastric cancer progression and therapeutic potential via oxidative stress and tumor microenvironment regulation.
Hu J et al.·Discov Oncol
2025🔓 Open Access
The NAT1-bHLH110-CER1/CER1L module regulates heat stress tolerance in rice.
Lu HP et al.·Nat Genet
2025
The CERV protein of Cer1, a C. elegans LTR retrotransposon, is required for nuclear export of viral genomic RNA and can form giant nuclear rods.
Sun B et al.·PLoS Genet
2023🔓 Open Access
Genome-wide identification of the CER1 gene family in apple and response of MdCER1-1 to drought stress.
Gao Y et al.·Funct Integr Genomics
2022
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools