NOBOX
NOBOX oogenesis homeobox
Gene Information Card
| Symbol | NOBOX |
|---|---|
| Full Name | NOBOX oogenesis homeobox |
| Gene Type | protein-coding |
| Chromosomal Location | 7q35 |
| NCBI Gene ID | 135935 ncbi.nlm.nih.gov/gene/135935 |
| Ensembl ID | ENSG00000106410 |
| UniProt ID | Q8N7X1 |
| OMIM ID | 610934 |
| HGNC ID | 24448 |
| Aliases | OG-2, OG2 |
Description
The NOBOX gene encodes a homeobox-containing transcription factor that plays a critical role in oogenesis and early folliculogenesis. It is expressed predominantly in oocytes and is essential for the transition from primordial to primary follicles. Mutations in NOBOX are associated with premature ovarian failure (POF) and primary ovarian insufficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Premature ovarian failure (POF) | Loss-of-function mutations impair oocyte development and follicle activation | ClinVar, OMIM |
| Primary ovarian insufficiency | Homozygous and compound heterozygous variants disrupt NOBOX DNA-binding activity | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 0.0 | Not detected (nTPM not available; RNA-seq low expression) |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Ovarian cancer cell line (e.g., OVCAR-3) | 0.0 | Not expressed in most cancer cell lines |
| Embryonic stem cells | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.304C>T (p.Arg102*) | Nonsense | Rare | Premature truncation, loss of function |
| c.349G>A (p.Gly117Arg) | Missense | Rare | Impaired DNA binding, reduced transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt DNA binding or protein stability lead to loss of NOBOX function, causing ovarian failure.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • sequence-specific DNA binding |
| • nucleus | • regulation of transcription by RNA polymerase II |
| • oogenesis | • female gonad development |
Pathways
• Oocyte meiosis
• Signaling pathways regulating pluripotency of stem cells
Protein Summary
NOBOX is a 305-amino acid homeobox transcription factor that binds to specific DNA sequences to regulate genes involved in oocyte growth and follicle development. It contains a homeodomain that mediates DNA binding and is localized to the nucleus. The protein is essential for female fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOBOX Knockout HEK293 Cell Line | EDJ-KQ9372 | Human | 135935 | Details Get a Quote |
| NOBOX Knockout HeLa Cell Line | EDJ-KQ58357 | Human | 135935 | Details Get a Quote |
| NOBOX Knockout A-549 Cell Line | EDJ-KQ66845 | Human | 135935 | Details Get a Quote |
| NOBOX Knockout HCT 116 Cell Line | EDJ-KQ75249 | Human | 135935 | Details Get a Quote |
