InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SIM2

Summary

InnateDB Gene

IDBG-3007.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SIM2

Gene Name

single-minded homolog 2 (Drosophila)

Synonyms

bHLHe15; HMC13F06; HMC29C01; SIM

Species

Homo sapiens

Ensembl Gene

ENSG00000159263

Encoded Proteins

IDBP-3009

single-minded homolog 2 (Drosophila)

IDBP-365095

single-minded homolog 2 (Drosophila)

IDBP-813174

single-minded family bHLH transcription factor 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. The Drosophila sim gene encodes a transcription factor that is a master regulator of fruit fly neurogenesis. SIM2 maps within the so-called Down syndrome chromosomal region. Based on the mapping position, its potential function as transcriptional repressor and similarity to Drosophila sim, it is proposed that SIM2 may contribute to some specific Down syndrome phenotypes [provided by RefSeq, Jul 2008]
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 Information

Type

Protein coding

Genomic Location

Chromosome 21:36699133-36749917

Strand

Forward strand

Band

q22.13

Transcripts

ENST00000290399	ENSP00000290399
ENST00000431229	ENSP00000392003
ENST00000460783
ENST00000481185
ENST00000483178	ENSP00000476273

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	26 [view]
Protein-Protein	26 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0004871	signal transducer activity
GO:0005515	protein binding
GO:0046982	protein heterodimerization activity
GO:0046983	protein dimerization activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007165	signal transduction
GO:0007399	nervous system development
GO:0009880	embryonic pattern specification
GO:0030154	cell differentiation
GO:0030324	lung development
GO:0045892	negative regulation of transcription, DNA-templated

Cellular Component

GO:0005634

nucleus

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000062713

View Gene Order

ENSBTAG00000021447

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.146186 Hs.611514 Hs.618325 Hs.668301

RefSeq

NM_005069 NM_009586

HUGO

OMIM

CCDS

CCDS13646

HPRD

02935

IMGT

EMBL

GenPept

RNA Seq Atlas