SIM2

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]

Description

SIM bHLH transcription factor 2

Protein family

Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas), Transcription factors

Chromosome

21:q22.13 (36699115 - 36749917)

Ensembl ID

ENSG00000159263  (ver. 99.38)

Orthologs

Mouse Sim2: ENSMUSG00000062713

UniProt

Q14190

neXtProt

NX_Q14190

Human splice variants
Mouse splice variants