NOBOX

NOBOX
Identifiers
Aliases	NOBOX, OG-2, OG2, OG2X, POF5, TCAG_12042, NOBOX oogenesis homeobox
External IDs	MGI: 108011 HomoloGene: 51066 GeneCards: NOBOX
Gene ontology Molecular function • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcription factor activity, sequence-specific DNA binding • DNA binding • sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding Cellular component • cytoplasm • nucleus Biological process • ovarian follicle development • multicellular organism development • cell differentiation • regulation of transcription, DNA-templated • transcription from RNA polymerase II promoter • transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • oogenesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	135935	18291
Ensembl	ENSG00000106410	ENSMUSG00000029736
UniProt	O60393	Q8VIH1
RefSeq (mRNA)	NM_001080413	NM_130869
RefSeq (protein)	NP_001073882	NP_570939.1
Location (UCSC)	Chr 7: 144.4 – 144.41 Mb	Chr 6: 43.3 – 43.31 Mb
PubMed search
Wikidata
View/Edit Human		View/Edit Mouse

Homeobox protein NOBOX, also known as newborn ovary homeobox protein, is a protein that in humans is encoded by the NOBOX gene.

Function

NOBOX is a homeobox gene that is preferentially expressed in oocytes. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes.

Clinical significance

A mutation in the NOBOX gene is associated with premature ovarian failure.

Further reading

• Rovescalli AC, Asoh S, Nirenberg M (Oct 1996). "Cloning and characterization of four murine homeobox genes". Proceedings of the National Academy of Sciences of the United States of America. 93 (20): 10691–6. doi:10.1073/pnas.93.20.10691. PMC 38216. PMID 8855241. 
• Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A (Sep 2007). "NOBOX homeobox mutation causes premature ovarian failure". American Journal of Human Genetics. 81 (3): 576–81. doi:10.1086/519496. PMC 1950834. PMID 17701902. 
• Brauner R, Bashamboo A, Rouget S, Goulet M, Philibert P, Sarda-Thibault H, Trivin C, Misrahi M, Sultan C, McElreavey K (2010). "Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls". PloS One. 5 (6): e11282. doi:10.1371/journal.pone.0011282. PMC 2892512. PMID 20593028. 
• Zhao XX, Suzumori N, Yamaguchi M, Suzumori K (Jun 2005). "Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure". Fertility and Sterility. 83 (6): 1843–4. doi:10.1016/j.fertnstert.2004.12.031. PMID 15950662. 
• Oldenburg RA, van Dooren MF, de Graaf B, Simons E, Govaerts L, Swagemakers S, Verkerk JM, Oostra BA, Bertoli-Avella AM (Dec 2008). "A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus". Human Reproduction. 23 (12): 2835–41. doi:10.1093/humrep/den278. PMID 18689850. 
• van Dooren MF, Bertoli-Avellab AM, Oldenburg RA (Aug 2009). "Premature ovarian failure and gene polymorphisms". Current Opinion in Obstetrics & Gynecology. 21 (4): 313–7. PMID 19610175. 
• Rajkovic A, Pangas SA, Ballow D, Suzumori N, Matzuk MM (Aug 2004). "NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression". Science. 305 (5687): 1157–9. doi:10.1126/science.1099755. PMID 15326356. 
• Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A, Ciccone R, Giorda R, Toniolo D, Maraschio P, Zuffardi O (2008). "A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea". European Journal of Medical Genetics. 51 (6): 631–8. doi:10.1016/j.ejmg.2008.06.010. PMID 18675947. 
• Qin Y, Shi Y, Zhao Y, Carson SA, Simpson JL, Chen ZJ (Apr 2009). "Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure". Fertility and Sterility. 91 (4 Suppl): 1507–9. doi:10.1016/j.fertnstert.2008.08.020. PMID 18930203.