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This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants.
Gene Name: | single-minded family bHLH transcription factor 2 |
Synonyms: | SIM2, BHLHe15, HMC29C01, HMC13F06, Transcription factor SIM2, Single-minded homolog 2, SIM |
Target Sequences: | NM_005069 NP_005060.1 Q14190 |
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