| Type | Description |
|---|---|
| Definition | NOBOX oogenesis homeobox |
| Date | Results | Publications |
|---|---|---|
| 2018-07-28 10:37:00 | We report the first familial case of a novel homozygous NOBOX variant with an autosomal recessive mode of inheritance, thus allowing for a genetic diagnosis of primary ovarian failure | 29067606 |
| 2018-05-12 11:51:00 | RSPO2 is a novel target gene of the NOBOX key transcription factor, confirming its important role during the follicular growth in ovary. However, RSPO2 mutations are rare or uncommon in women with primary ovarian insufficiency. | 28743298 |
| 2018-02-24 11:10:00 | One novel homozygous truncating variant, chr7:144098161delC, in the NOBOX gene was found in a primary ovarian insufficiency patient. The truncating variant showed a severe defect in transcriptional activation of GDF9 a well-known target of NOBOX. Many oocyte-related genes were expressed at lower level in truncating variant cells than in control cells. We found the truncated NOBOX lost its ability to induced G2/M arrest. | 27836978 |
| 2017-07-29 10:50:00 | we report the identification of two novel and two recurrent heterozygous NOBOX variants in 7 out of 107 patients, with a prevalence of 6.5% (upper 95% confidence limit of 11.17%). Several variants conserve the ability to interact with FOXL2 in intracellular aggregates | 27798098 |
| 2017-05-07 01:21:00 | Screening of NOBOX gene indicted three missense mutations (p.Arg117Trp; p.Gly91Trp and p.Pro619Leu) in eight patients with primary ovarian insufficiency. | 26848058 |
| Type | IDs |
|---|---|
| Synonymous | OG-2, OG2, OG2X, POF5, TCAG_12042 |
| Gene |
UniProtKB-ID:
NOBOX_HUMAN
UniprotKB:
O60393
UniParc:
UPI00019B220B,
UPI00019B220C
EMBL:
AC004534
Ensembl:
ENSG00000106410
KO:
hsa:135935
|
| Nucleutide sequences |
EMBL-CDS:
AAC12957.1
Ensembl_TRS:
ENST00000483238,
ENST00000467773
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000419457,
ENSP00000419565
RefSeq:
NP_001073882.3,
XP_016867231.1
|
| Others |
UniRef100:
UniRef100_O60393
UniRef90:
UniRef90_O60393
UniRef50:
UniRef50_O60393
UniGene:
Hs.558628
CCDS:
CCDS47736.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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