SIX3
Sine oculis homeobox homolog 3 (Drosophila) | |||||||||||
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Identifiers | |||||||||||
Symbols | SIX3 ; HPE2 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 3947 | ||||||||||
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RNA expression pattern | |||||||||||
File:PBB GE SIX3 206634 at tn.png | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Sine oculis homeobox homolog 3 (Drosophila), also known as SIX3, is a human gene.[1]
References
Further reading
- Hecht BK, Hecht F, Münke M (1991). "Forebrain cleavage gene causing holoprosencephaly: deletion mapping to chromosome band 2p21". Am. J. Med. Genet. 40 (1): 130. doi:10.1002/ajmg.1320400131. PMID 1887845.
- Granadino B, Gallardo ME, López-Ríos J; et al. (1999). "Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene". Genomics. 55 (1): 100–5. PMID 9889003.
- Wallis DE, Roessler E, Hehr U; et al. (1999). "Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly". Nat. Genet. 22 (2): 196–8. doi:10.1038/9718. PMID 10369266.
- Leppert GS, Yang JM, Sundin OH (1999). "Sequence and location of SIX3, a homeobox gene expressed in the human eye". Ophthalmic Genet. 20 (1): 7–21. PMID 10415461.
- Ohto H, Kamada S, Tago K; et al. (2000). "Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya". Mol. Cell. Biol. 19 (10): 6815–24. PMID 10490620.
- Mikkola I, Bruun JA, Holm T, Johansen T (2001). "Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins". J. Biol. Chem. 276 (6): 4109–18. doi:10.1074/jbc.M008882200. PMID 11069920.
- Ohkura N, Ohkubo T, Maruyama K; et al. (2001). "The orphan nuclear receptor NOR-1 interacts with the homeobox containing protein Six3". Dev. Neurosci. 23 (1): 17–24. PMID 11173923.
- Lengler J, Graw J (2001). "Regulation of the human SIX3 gene promoter". Biochem. Biophys. Res. Commun. 287 (2): 372–6. doi:10.1006/bbrc.2001.5605. PMID 11554737.
- Zhu CC, Dyer MA, Uchikawa M; et al. (2002). "Six3-mediated auto repression and eye development requires its interaction with members of the Groucho-related family of co-repressors". Development. 129 (12): 2835–49. PMID 12050133.
- López-Ríos J, Tessmar K, Loosli F; et al. (2003). "Six3 and Six6 activity is modulated by members of the groucho family". Development. 130 (1): 185–95. PMID 12441302.
- 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:10.1073/pnas.242603899. PMID 12477932.
- Laflamme C, Filion C, Bridge JA; et al. (2003). "The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomas". Cancer Res. 63 (2): 449–54. PMID 12543801.
- Del Bene F, Tessmar-Raible K, Wittbrodt J (2004). "Direct interaction of geminin and Six3 in eye development". Nature. 427 (6976): 745–9. doi:10.1038/nature02292. PMID 14973488.
- Dubourg C, Lazaro L, Pasquier L; et al. (2004). "Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations". Hum. Mutat. 24 (1): 43–51. doi:10.1002/humu.20056. PMID 15221788.
- Laflamme C, Filion C, Labelle Y (2005). "Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1". Hum. Mutat. 24 (6): 502–8. doi:10.1002/humu.20102. PMID 15523651.
- Pasquier L, Dubourg C, Gonzales M; et al. (2006). "First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations". J. Med. Genet. 42 (1): e4. doi:10.1136/jmg.2004.023416. PMID 15635066.
- Bendavid C, Dubourg C, Gicquel I; et al. (2007). "Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes". Hum. Genet. 119 (1–2): 1–8. doi:10.1007/s00439-005-0097-6. PMID 16323008.
- Manavathi B, Peng S, Rayala SK; et al. (2007). "Repression of Six3 by a corepressor regulates rhodopsin expression". Proc. Natl. Acad. Sci. U.S.A. 104 (32): 13128–33. doi:10.1073/pnas.0705878104. PMID 17666527.
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