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

Gene: LOC107985492

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Gene: LOC105369308

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rs2269188 in SIM2;LOC107985492;LOC105369308 gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2269188 in SIM2;LOC107985492;LOC105369308 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2269188 in SIM2;LOC107985492;LOC105369308 gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.