NOBOX (NOBOX oogenesis homeobox)

2014-11-01  

Identity

HGNC
LOCATION
7q35
LOCUSID
ALIAS
OG-2,OG2,OG2X,POF5,TCAG_12042

Other Information

Locus ID:

NCBI: 135935
MIM: 610934
HGNC: 22448
Ensembl: ENSG00000106410

Variants:

dbSNP: 135935
ClinVar: 135935
TCGA: ENSG00000106410
COSMIC: NOBOX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106410ENST00000467773O60393
ENSG00000106410ENST00000483238O60393
ENSG00000106410ENST00000643164A0A2R8Y683
ENSG00000106410ENST00000645489A0A2R8Y8C8

Expression (GTEx)

0
1

References

Pubmed IDYearTitleCitations
177019022007NOBOX homeobox mutation causes premature ovarian failure.53
218377702011Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.22
165976392006cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles.21
189302032009Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure.12
189302032009Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure.12
255141012015New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.8
278369782017A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.8
159506622005Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure.5
246200322014NOBOX is a key FOXL2 partner involved in ovarian folliculogenesis.4
290676062017A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.3

Citation

Dessen P

NOBOX (NOBOX oogenesis homeobox)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70894/nobox