NANOS2
NANOS C2HC-Type Zinc Finger 2
Gene Information Card
| Symbol | NANOS2 |
|---|---|
| Full Name | NANOS C2HC-Type Zinc Finger 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 339345 ncbi.nlm.nih.gov/gene/339345 |
| Ensembl ID | ENSG00000188428 |
| UniProt ID | Q8N9V2 |
| OMIM ID | 608228 |
| HGNC ID | 23037 |
| Aliases | NOS2, nanos homolog 2 |
Description
NANOS2 encodes a C2HC-type zinc finger RNA-binding protein essential for germ cell development. It represses translation of specific mRNAs to maintain germline stem cell self-renewal and suppress differentiation, particularly in male germ cells. In mice, Nanos2 is required for spermatogonial stem cell maintenance; in humans, loss-of-function variants cause spermatogenic failure and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 6 (SPGF6) | Loss-of-function mutations in NANOS2 disrupt germ cell maintenance, leading to azoospermia and male infertility. | ClinVar, OMIM |
| Non-obstructive azoospermia | NANOS2 deficiency impairs spermatogonial stem cell self-renewal, resulting in Sertoli cell-only syndrome. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 11.2 | Medium |
| Ovary | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatogonial stem cells | N/A | Key role in self-renewal |
| Testicular germ cell tumor cell lines | N/A | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, no protein produced |
| c.349C>T (p.Arg117*) | Nonsense | Rare | Premature stop, loss of function |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Impaired RNA binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause complete loss of NANOS2 function, leading to spermatogenic failure.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • RNA binding | • zinc ion binding |
| • regulation of translation | • germ cell development |
| • male gonad development |
Pathways
• Germ cell development
• PIWI-interacting RNA pathway
• mRNA surveillance
Protein Summary
NANOS2 is a 153-amino acid RNA-binding protein containing two C2HC-type zinc finger domains. It localizes to cytoplasmic granules and represses translation of target mRNAs involved in germ cell differentiation. The protein is critical for maintaining the undifferentiated state of spermatogonial stem cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NANOS2 Knockout HEK293 Cell Line | EDJ-KQ14370 | Human | 339345 | Details Get a Quote |
| NANOS2 Knockout HeLa Cell Line | EDJ-KQ59638 | Human | 339345 | Details Get a Quote |
| NANOS2 Knockout A-549 Cell Line | EDJ-KQ68105 | Human | 339345 | Details Get a Quote |
| NANOS2 Knockout HCT 116 Cell Line | EDJ-KQ76482 | Human | 339345 | Details Get a Quote |
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