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SBIDDS
Chr 16ARprotein arginine methyltransferase 7
Also known as: SBIDDS
The protein encoded by this gene is a methyltransferase that transfers methyl groups to arginine residues on histone proteins and other substrates, playing roles in neuronal differentiation, gene regulation, and Wnt signaling. Autosomal recessive mutations cause a syndrome characterized by short stature, brachydactyly (short fingers), intellectual disability, and seizures. This represents a multisystem disorder affecting growth, skeletal development, cognition, and neurological function.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SBIDDS?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
SBIDDS · 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 →External Resources
Links to major genomics databases and tools