SIM2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SIM2 |
| Official Name | SIM bHLH transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:10883] |
| Ensembl ID | ENSG00000159263 |
| Bio databases IDs | |
| Aliases | SIM bHLH transcription factor 2, transcription factor SIM2 |
| Synonyms | bHLHe15, HMC13F06, HMC29C01, SIM, SIM bHLH transcription factor 2, single-minded family bHLH transcription factor 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SIM2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- PAS
- basic Helix Loop Helix (bHLH) domain superfamily
- protein binding
- PAS fold
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription repression domain
- PAS domain
- helix loop helix domain
- helix-loop-helix domain
- Motif C-terminal to PAS motifs (likely to contribute to PAS structural domain)
- Helix-loop-helix DNA-binding domain
- transcription factor activity
- Single-minded protein C-terminus
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- tumorigenesis
- neoplasia
- epithelial cancer
- pancreatic neoplasia
- metastasis
- prostate cancer
- breast cancer
- chromosomal instability
- weight gain
- rotator cuff injury
role in cell
- expression in
- invasion by
- migration
- proliferation
- growth
- apoptosis
- sphere formation
- survival
- epithelial-mesenchymal transition
- invasiveness
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SIM2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- embryonic pattern specification
- cell differentiation
- nervous system development
- regulation of transcription from RNA polymerase II promoter
- lung development
Cellular Component
Where in the cell the gene product is active
- nuclear body
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- protein heterodimerization activity
- RNA polymerase II regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity