SIX2

SIX2
Identifiers
Aliases	SIX2 , SIX homeobox 2
External IDs	OMIM: 604994 MGI: 102778 HomoloGene: 56518 GeneCards: SIX2
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2p21 Start 45,005,182 bp [1] End 45,009,452 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17 E4|17 55.72 cM Start 85,684,277 bp [2] End 85,688,274 bp [2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • transcription factor binding • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0032403 macromolecular complex binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • transcription regulatory region sequence-specific DNA binding Cellular component • cell nucleus • transcription regulator complex Biological process • embryonic skeletal system morphogenesis • regulation of chondrocyte differentiation • regulation of transcription, DNA-templated • positive regulation of chondrocyte proliferation • chondrocyte differentiation • protein import into nucleus • kidney development • negative regulation of cell differentiation • anatomical structure morphogenesis • mesenchymal stem cell maintenance involved in nephron morphogenesis • mesenchymal to epithelial transition involved in metanephros morphogenesis • mesenchymal cell differentiation involved in kidney development • mesenchymal stem cell proliferation • transcription from RNA polymerase II promoter • regulation of branching involved in ureteric bud morphogenesis • multicellular organism development • nephron morphogenesis • nephron development • middle ear morphogenesis • embryonic digestive tract morphogenesis • embryonic cranial skeleton morphogenesis • regulation of ossification • cellular proliferation • mesodermal cell fate specification • anterior/posterior axis specification • metanephros development • cell migration • positive regulation of transcription from RNA polymerase II promoter • condensed mesenchymal cell proliferation • negative regulation of transcription, DNA-templated • anatomical structure development Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	10736	20472
Ensembl	ENSG00000170577	ENSMUSG00000024134
UniProt	Q9NPC8 Q8TBA2	Q62232
RefSeq (mRNA)	NM_016932	NM_011380
RefSeq (protein)	NP_058628 NP_058628.3	NP_035510
Location (UCSC)	Chr 2: 45.01 – 45.01 Mb	Chr 17: 85.68 – 85.69 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein SIX2 is a protein that in humans is encoded by the SIX2 gene. ^{[5] [6]}

References

1. GRCh38: Ensembl release 89: ENSG00000170577 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024134 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: SIX2 sine oculis homeobox homolog 2 (Drosophila)".
6. Oliver, Guillermo (1995). "Homeobox genes and connective tissue patterning" (PDF). Development. 121 (3): 693–705. PMID   7720577.

Further reading

• 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. PMC   139241 . PMID   12477932.
• 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. doi: 10.1242/dev.00185 . PMID   12441302.
• Ikeda K, Watanabe Y, Ohto H, Kawakami K (2002). "Molecular interaction and synergistic activation of a promoter by Six, Eya, and Dach proteins mediated through CREB binding protein". Mol. Cell. Biol. 22 (19): 6759–66. doi:10.1128/MCB.22.19.6759-6766.2002. PMC   134036 . PMID   12215533.
• Buller C, Xu X, Marquis V, et al. (2002). "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome". Hum. Mol. Genet. 10 (24): 2775–81. doi:10.1093/hmg/10.24.2775. PMID   11734542.
• Boucher CA, Winchester CL, Hamilton GM, et al. (2000). "Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2". Gene. 247 (1–2): 145–51. doi:10.1016/S0378-1119(00)00105-0. PMID   10773454.
• Celli J, van Beusekom E, Hennekam RC, et al. (2000). "Familial syndromic esophageal atresia maps to 2p23-p24". Am. J. Hum. Genet. 66 (2): 436–44. doi:10.1086/302779. PMC   1288096 . PMID   10677303.
• Kawakami K, Ohto H, Takizawa T, Saito T (1996). "Identification and expression of six family genes in mouse retina". FEBS Lett. 393 (2–3): 259–63. doi: 10.1016/0014-5793(96)00899-X . PMID   8814301. S2CID   20829948.