NOBOX (NOBOX oogenesis homeobox)

2014-11-01  

Identity

HGNC
NOBOX
LOCATION
7q35
LOCUSID
135935
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
379219732024NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.0
379219732024NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.0
344804232021Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.3
344804232021Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.3
278369782017A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.27
287432982017R-spondin2, a novel target of NOBOX: identification of variants in a cohort of women with primary ovarian insufficiency.7
290676062017A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.11
278369782017A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.27
287432982017R-spondin2, a novel target of NOBOX: identification of variants in a cohort of women with primary ovarian insufficiency.7
290676062017A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.11
268480582016NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency.6
277980982016Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.12
268480582016NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency.6
277980982016Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.12
255141012015New 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/nobox-(nobox-oogenesis-homeobox)