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SOTOS

Chr 5AD

nuclear receptor binding SET domain protein 1

Also known as: ARA267, KMT3B, SOTOS, SOTOS1, STO

NCBI Gene: 64324 OMIM: 117550

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]

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AD1 OMIM phenotype

Clinical Summary— SOTOS

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/SOTOS?content-type=application/json&expand=1

gnomad: Error: Gene not found