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. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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.