CREB1
Chr 2cAMP responsive element binding protein 1
CREB1 encodes a phosphorylation-dependent transcription factor that binds to cAMP response elements to regulate gene expression in response to hormonal stimulation and is involved in circadian rhythms and cellular differentiation. Mutations cause autosomal dominant developmental delay, intellectual disability, and seizures, often with additional features including autism spectrum disorder and behavioral abnormalities. This gene is highly constrained against loss-of-function variants (pLI 0.997), indicating that heterozygous mutations are likely pathogenic.
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CREB1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools