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SGBS2
Chr XXLRSimpson-Golabi-Behmel syndrome, type 2
SGBS2 encodes a protein involved in cell growth and development regulation. Mutations cause Simpson-Golabi-Behmel syndrome type 2, characterized by overgrowth, distinctive facial features, and potential developmental delays with X-linked recessive inheritance affecting primarily males.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SGBS2?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
SGBS2 · 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