SIM2

SIM2
Identifiers
Aliases	SIM2, HMC13F06, HMC29C01, SIM, bHLHe15, single-minded family bHLH transcription factor 2
External IDs	MGI: 98307 HomoloGene: 3716 GeneCards: SIM2
Gene location (Human) Chr. Chromosome 21 (human) Band 21q22.13 Start 36,699,133 bp End 36,749,917 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16 C4|16 55.05 cM Start 94,085,260 bp End 94,127,032 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • transcription factor activity, sequence-specific DNA binding • protein heterodimerization activity • RNA polymerase II transcription factor activity, sequence-specific DNA binding • protein dimerization activity • DNA binding Cellular component • nucleoplasm • nuclear body • nucleus Biological process • multicellular organism development • regulation of transcription, DNA-templated • negative regulation of transcription from RNA polymerase II promoter • regulation of transcription from RNA polymerase II promoter • cell differentiation • embryonic pattern specification • transcription, DNA-templated • lung development • negative regulation of transcription, DNA-templated • nervous system development Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6493	20465
Ensembl	ENSG00000159263	ENSMUSG00000062713
UniProt	Q14190	Q61079
RefSeq (mRNA)	NM_005069 NM_009586	NM_011377
RefSeq (protein)	NP_005060 NP_033664	NP_035507
Location (UCSC)	Chr 21: 36.7 – 36.75 Mb	Chr 21: 94.09 – 94.13 Mb
PubMed search

6493

20465

ENSG00000159263

ENSMUSG00000062713

Q14190

Q61079

NM_005069
NM_009586

NM_011377

NP_005060
NP_033664

NP_035507

Single-minded homolog 2 is a protein that in humans is encoded by the SIM2 gene. It plays a major role in the development of the central nervous system midline as well as the construction of the face and head.

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 neurogenesis of midline cells in the central nervous system. SIM2 maps within the so-called Down syndrome chromosomal region, specifically on the q arm of chromosome 21, band 22.2. 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

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