SIM2
From Wikipedia, the free encyclopedia
Single-minded homolog 2 (Drosophila)
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Identifiers | ||||||||||||||
Symbol(s) | SIM2; MGC119447; SIM | |||||||||||||
External IDs | OMIM: 600892 MGI: 98307 HomoloGene: 3716 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 6493 | 20465 | ||||||||||||
Ensembl | ENSG00000159263 | n/a | ||||||||||||
Uniprot | Q14190 | n/a | ||||||||||||
Refseq | NM_005069 (mRNA) NP_005060 (protein) |
NM_011377 (mRNA) NP_035507 (protein) |
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Location | Chr 21: 36.99 - 37.04 Mb | n/a | ||||||||||||
Pubmed search | [1] | [2] |
Single-minded homolog 2 (Drosophila), also known as SIM2, is a human gene.[1]
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[1]
[edit] References
[edit] Further reading
- Muenke M, Bone LJ, Mitchell HF, et al. (1995). "Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome.". Am. J. Hum. Genet. 57 (5): 1074–9. PMID 7485157.
- Dahmane N, Charron G, Lopes C, et al. (1995). "Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development.". Proc. Natl. Acad. Sci. U.S.A. 92 (20): 9191–5. PMID 7568099.
- Chen H, Chrast R, Rossier C, et al. (1995). "Single-minded and Down syndrome?". Nat. Genet. 10 (1): 9–10. doi: . PMID 7647800.
- Yamaki A, Noda S, Kudoh J, et al. (1996). "The mammalian single-minded (SIM) gene: mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome.". Genomics 35 (1): 136–43. doi: . PMID 8661114.
- Fan CM, Kuwana E, Bulfone A, et al. (1996). "Expression patterns of two murine homologs of Drosophila single-minded suggest possible roles in embryonic patterning and in the pathogenesis of Down syndrome.". Mol. Cell. Neurosci. 7 (1): 1–16. doi: . PMID 8812055.
- Osoegawa K, Okano S, Kato Y, et al. (1997). "A 19-kb CpG island associated with single-minded gene 2 in Down syndrome chromosomal region.". DNA Res. 3 (3): 175–9. PMID 8905236.
- Probst MR, Fan CM, Tessier-Lavigne M, Hankinson O (1997). "Two murine homologs of the Drosophila single-minded protein that interact with the mouse aryl hydrocarbon receptor nuclear translocator protein.". J. Biol. Chem. 272 (7): 4451–7. PMID 9020169.
- Chrast R, Scott HS, Chen H, et al. (1997). "Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region.". Genome Res. 7 (6): 615–24. PMID 9199934.
- Moffett P, Reece M, Pelletier J (1997). "The murine Sim-2 gene product inhibits transcription by active repression and functional interference.". Mol. Cell. Biol. 17 (9): 4933–47. PMID 9271372.
- Dahmane N, Ghezala GA, Gosset P, et al. (1998). "Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome.". Genomics 48 (1): 12–23. doi: . PMID 9503011.
- Ema M, Ikegami S, Hosoya T, et al. (1999). "Mild impairment of learning and memory in mice overexpressing the mSim2 gene located on chromosome 16: an animal model of Down's syndrome.". Hum. Mol. Genet. 8 (8): 1409–15. PMID 10400987.
- Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21.". Nature 405 (6784): 311–9. doi: . PMID 10830953.
- Yamaki A, Tochigi J, Kudoh J, et al. (2001). "Molecular mechanisms of human single-minded 2 (SIM2) gene expression: identification of a promoter site in the SIM2 genomic sequence.". Gene 270 (1-2): 265–75. PMID 11404025.
- Woods SL, Whitelaw ML (2002). "Differential activities of murine single minded 1 (SIM1) and SIM2 on a hypoxic response element. Cross-talk between basic helix-loop-helix/per-Arnt-Sim homology transcription factors.". J. Biol. Chem. 277 (12): 10236–43. doi: . PMID 11782478.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi: . PMID 12477932.
- Deyoung MP, Scheurle D, Damania H, et al. (2003). "Down's syndrome-associated single minded gene as a novel tumor marker.". Anticancer Res. 22 (6A): 3149–57. PMID 12530058.
- DeYoung MP, Tress M, Narayanan R (2003). "Identification of Down's syndrome critical locus gene SIM2-s as a drug therapy target for solid tumors.". Proc. Natl. Acad. Sci. U.S.A. 100 (8): 4760–5. doi: . PMID 12676991.
- DeYoung MP, Tress M, Narayanan R (2003). "Down's syndrome-associated Single Minded 2 gene as a pancreatic cancer drug therapy target.". Cancer Lett. 200 (1): 25–31. PMID 14550949.
- Yamaki A, Kudoh J, Shimizu N, Shimizu Y (2004). "A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2.". Biochem. Biophys. Res. Commun. 313 (3): 482–8. PMID 14697214.
- Ooe N, Saito K, Mikami N, et al. (2004). "Identification of a novel basic helix-loop-helix-PAS factor, NXF, reveals a Sim2 competitive, positive regulatory role in dendritic-cytoskeleton modulator drebrin gene expression.". Mol. Cell. Biol. 24 (2): 608–16. PMID 14701734.