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SOTOS
Chr 5ADnuclear receptor binding SET domain protein 1
Also known as: ARA267, KMT3B, SOTOS, SOTOS1, STO
This gene encodes a transcriptional regulator containing a SET domain and multiple functional motifs that enhances androgen receptor transactivation and acts as a bifunctional transcriptional factor. Mutations cause Sotos syndrome, an autosomal dominant condition characterized by childhood overgrowth, macrocephaly, distinctive facial features, and developmental delays with onset in early childhood. The gene has also been associated with Weaver syndrome and is involved in certain cases of childhood acute myeloid leukemia through chromosomal translocations.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SOTOS?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
SOTOS · 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