Property Summary

NCBI Gene PubMed Count 18
Grant Count 24
R01 Count 17
Funding $2,391,135.13
PubMed Score 45.90
PubTator Score 26.95

Knowledge Summary

Patent

No data available

Gene RIF (8)

PMID Text
25514101 High prevalence of the association between the NOBOX rare variants and Primary ovarian insufficiency.
24620032 both NOBOX and FOXL2 are expressed in human follicle granulosa cells and their interaction plays an inhibitory role in the transcriptional response of these promoters.
21837770 The very high 6.2% prevalence of these new mutations in POI patients suggest considering NOBOX as the first autosomal candidate gene involved in this syndrome.
18930203 Mutations in the homeobox domain of NOBOX are not common explanations for POF in Chinese women.
18930203 Observational study of gene-disease association. (HuGE Navigator)
17701902 These findings demonstrate that NOBOX mutations can cause premature ovarian failure.
16597639 NOBOX expression within adult human tissues is limited to the testis, pancreas and oocyte specific in ovary.
15950662 Mutations of the homeobox region of the NOBOX gene are uncommon in Japanese patients with premature ovarian failure.

AA Sequence

MALLLTLTSPDLEGTWDTRDKDGFKAQEGPPLAVPEFPVCGLYRIYGVCGSFSSFFIIRCSLCALETLKS      1 - 70
PQHDPLEIPEQSLKLIPLVSGKRELTRGQKAGEKPLAAGPGEEELLRGSAPHAQDTQSEELPPSCTISGE     71 - 140
KKPPAVSGEATGADAGRLCPPPRSRAPHKDRTLARSRPQTQGEDCSLPVGEVKIGKRSYSPAPGKQKKPN    141 - 210
AMGLAPTSSPGAPNSARATHNPVPCGSGRGPCHLANLLSTLAQSNQNRDHKQGPPEVTCQIRKKTRTLYR    211 - 280
SDQLEELEKIFQEDHYPDSDKRREIAQTVGVTPQRIMVKGAGSLVAGWSGGGPTIETLELQSERSAVAWV    281 - 350
WFQNRRAKWRKMEKLNGKESKDNPAAPGPASSQCSSAAEILPAVPMEPKPDPFPQESPLDTFPEPPMLLT    351 - 420
SDQTLAPTQPSEGAQRVVTPPLFSPPPVRRADLPFPLGPVHTPQLMPLLMDVAGSDSSHKDGPCGSWGTS    421 - 490
ITLPPPCSYLEELEPQDYQQSNQPGPFQFSQAPQPPLFQSPQPKLPYLPTFPFSMPSSLTLPPPEDSLFM    491 - 560
FPCGPSGGTSQGYCPGASSGQILMQPPAGNIGTASWSDPCLPELPFPGPFCPQALGHPPGGDGYFPDLFP    561 - 630
TPCPQALGRQPSSALSWMPEGARPGTGPLLSKAKEEPPAASLDQPSALEEARGDDKNSHVP             631 - 691
//

Text Mined References (18)

PMID Year Title
26412852 2015 Comprehensive comparative homeobox gene annotation in human and mouse.
25514101 2015 New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.
24620032 2014 NOBOX is a key FOXL2 partner involved in ovarian folliculogenesis.
23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
21837770 2011 Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.
20593028 2010 Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.
19610175 2009 Premature ovarian failure and gene polymorphisms.
18930203 2009 Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure.
18689850 2008 A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus.
18675947 A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.
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