Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 135935
MIM: 610934
HGNC: 22448
Ensembl: ENSG00000106410
Variants:
dbSNP: 135935
ClinVar: 135935
TCGA: ENSG00000106410
COSMIC: NOBOX
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000106410 | ENST00000467773 | O60393 |
| ENSG00000106410 | ENST00000483238 | O60393 |
| ENSG00000106410 | ENST00000643164 | A0A2R8Y683 |
| ENSG00000106410 | ENST00000645489 | A0A2R8Y8C8 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37921973 | 2024 | NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights. | 0 |
| 37921973 | 2024 | NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights. | 0 |
| 34480423 | 2021 | Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea. | 3 |
| 34480423 | 2021 | Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea. | 3 |
| 27836978 | 2017 | A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency. | 27 |
| 28743298 | 2017 | R-spondin2, a novel target of NOBOX: identification of variants in a cohort of women with primary ovarian insufficiency. | 7 |
| 29067606 | 2017 | A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure. | 11 |
| 27836978 | 2017 | A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency. | 27 |
| 28743298 | 2017 | R-spondin2, a novel target of NOBOX: identification of variants in a cohort of women with primary ovarian insufficiency. | 7 |
| 29067606 | 2017 | A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure. | 11 |
| 26848058 | 2016 | NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency. | 6 |
| 27798098 | 2016 | Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency. | 12 |
| 26848058 | 2016 | NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency. | 6 |
| 27798098 | 2016 | Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency. | 12 |
| 25514101 | 2015 | New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression. | 20 |
Citation
Dessen P
NOBOX (NOBOX oogenesis homeobox)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70894/gene-explorer/new-content/
