Gene: SIM2

Alternate names for this Gene: HMC13F06|HMC29C01|SIM|bHLHe15

Gene Summary: 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 is located in Chromosome: 21

Location in Chromosome : 21q22.13

Description of this Gene: SIM bHLH transcription factor 2

Type of Gene: protein-coding

rs732638 in SIM2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.