SIM2 Chromosome 21

SIM bHLH transcription factor 2

1 variant 1 Health Risk

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What This Gene Does

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. [provided by RefSeq, Sep 2014]

Gene Info

Gene Group

"Basic helix-loop-helix proteins|PAS domain containing"

Locus Type

gene with protein product

Location

21q22.13

Ensembl

ENSG00000159263

Associated Conditions (1)

Neurodevelopmental with craniofacial anomalies disorder

Key Variants

RS201840539

Likely pathogenic

Neurodevelopmental with craniofacial anomalies disorder, Neurodevelopmental with craniofacial anomalies disorder

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS201840539	Health Risk	Likely pathogenic	Neurodevelopmental with craniofacial anomalies disorder, Neurodevelopmental with craniofacial anomalies disorder