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FSHD4
Chr 20Digenic dominantDNA methyltransferase 3 beta
Also known as: FSHD4, ICF, ICF1, M.HsaIIIB
This gene encodes a DNA methyltransferase that performs de novo methylation during embryonic development, with nuclear localization and developmentally regulated expression. Mutations cause facioscapulohumeral muscular dystrophy 4, a muscle disorder affecting facial, shoulder, and upper arm muscles. The condition follows digenic dominant inheritance, requiring mutations in two different genes for disease manifestation.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/FSHD4?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FSHD4 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools