Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
FSHD2
Chr 18Digenic dominantstructural maintenance of chromosomes flexible hinge domain containing 1
Also known as: BAMS, FSHD2
This protein contains a hinge region domain characteristic of the SMC (structural maintenance of chromosomes) family. Mutations cause facioscapulohumeral muscular dystrophy 2, a progressive muscle disorder primarily affecting facial, shoulder, and upper arm muscles. The condition follows digenic dominant inheritance, requiring mutations in both this gene and another gene for disease manifestation.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/FSHD2?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
FSHD2 · 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