Gene: SIM1

Alternate names for this Gene: bHLHe14

Gene Summary: SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or cognitive disability of Down syndrome.

Gene is located in Chromosome: 6

Location in Chromosome : 6q16.3

Description of this Gene: SIM bHLH transcription factor 1

Type of Gene: protein-coding

rs1857859 in SIM1 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs4840132 in SIM1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.