CER1

Chr 9

cerberus 1, DAN family BMP antagonist

Also known as: DAND4

NCBI Gene: 9350ENSG00000147869UniProt: O95813OMIM: 603777

The protein is a cytokine that inhibits bone morphogenetic protein (BMP) signaling and regulates Nodal signaling during embryonic development, particularly in anterior neural induction and somite formation. Mutations cause autosomal recessive neural tube defects including spina bifida and anencephaly. This gene is not highly constrained against loss-of-function variants, consistent with a recessive inheritance pattern.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.80
Clinical Summary— CER1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
109 unique Pathogenic / Likely Pathogenic· 44 VUS of 160 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
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
-1.64Z-score
OE missense 1.38 (1.23–1.55)
203 obs / 147.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.06 (0.60–1.80)
0≤0.351.4
Missense OE1.38 (1.23–1.55)
0≤0.61.4
Synonymous OE1.26
0≤1.21.6
LoF obs/exp: 7 / 6.6Missense obs/exp: 203 / 147.1Syn Z: -1.55
DN
0.6744th %ile
GOF
0.3987th %ile
LOF
0.4136th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

160 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic102
Likely Pathogenic7
VUS44
Likely Benign5
102
Pathogenic
7
Likely Pathogenic
44
VUS
5
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
102
0
102
Likely Pathogenic
0
0
7
0
7
VUS
0
40
4
0
44
Likely Benign
0
4
0
1
5
Benign
0
0
0
0
0
Total0441131158

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.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
The role of the Cer1 transposon in horizontal transfer of transgenerational memory.
Moore RS et al.·Cell
2021
Origin and diversification of ECERIFERUM1 (CER1) and ECERIFERUM3 (CER3) genes in land plants and phylogenetic evidence that the ancestral CER1/3 gene resulted from the fusion of pre-existing domains.
Chaudhary K et al.·Mol Phylogenet Evol
2021
Dissecting the Roles of Cuticular Wax in Plant Resistance to Shoot Dehydration and Low-Temperature Stress in Arabidopsis
Rahman T et al.·Int J Mol Sci
2021
Author Correction: The NAT1-bHLH110-CER1/CER1L module regulates heat stress tolerance in rice.
Lu HP et al.·Nat Genet
2025
The ARRE RING-Type E3 Ubiquitin Ligase Negatively Regulates Cuticular Wax Biosynthesis in Arabidopsis thaliana by Controlling ECERIFERUM1 and ECERIFERUM3 Protein Levels
Liu S et al.·Front Plant Sci
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients