Aliases for SIM2 Gene
External Ids for SIM2 Gene
Previous HGNC Symbols for SIM2 Gene
Previous GeneCards Identifiers for SIM2 Gene
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]
GeneCards Summary for SIM2 Gene
SIM2 (Single-Minded Family BHLH Transcription Factor 2) is a Protein Coding gene. Diseases associated with SIM2 include Down Syndrome and Holoprosencephaly 1. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and signal transducer activity. An important paralog of this gene is SIM1.
UniProtKB/Swiss-Prot for SIM2 Gene
Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development.