SIX2

SIX2
Identifiers
Aliases	SIX2 , SIX homeobox 2
External IDs	OMIM: 604994; MGI: 102778; HomoloGene: 56518; GeneCards: SIX2; OMA:SIX2 - orthologs
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 85,991,705 bp [2] End 85,995,702 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in olfactory zone of nasal mucosa gastrocnemius muscle parotid gland muscle of thigh nasal epithelium tendon of biceps brachii testicle tibialis anterior muscle palpebral conjunctiva pituitary gland Top expressed in genital tubercle vestibular membrane of cochlear duct maxillary prominence parotid gland external carotid artery vestibular sensory epithelium internal carotid artery urethra utricle muscle of thigh More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific transcription factor binding RNA polymerase II cis-regulatory region sequence-specific DNA binding protein-containing complex binding DNA-binding transcription factor activity, RNA polymerase II-specific transcription cis-regulatory region binding Cellular component 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 by RNA polymerase II 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 cell population proliferation mesodermal cell fate specification anterior/posterior axis specification metanephros development cell migration positive regulation of transcription by RNA polymerase II 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: 85.99 – 86 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. doi:10.1242/dev.121.3.693. hdl:11858/00-001M-0000-0013-037D-E. 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:1996FEBSL.393..259K. doi: 10.1016/0014-5793(96)00899-X . PMID   8814301. S2CID   20829948.