NANOS3
Nanos C2HC-Type Zinc Finger 3
Gene Information Card
| Symbol | NANOS3 |
|---|---|
| Full Name | Nanos C2HC-Type Zinc Finger 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 342977 ncbi.nlm.nih.gov/gene/342977 |
| Ensembl ID | ENSG00000187556 |
| UniProt ID | Q8N7C0 |
| OMIM ID | 608229 |
| HGNC ID | 23318 |
| Aliases | NANOS3, nanos homolog 3, nanos3 |
Description
NANOS3 encodes a member of the nanos family of zinc finger proteins, which are evolutionarily conserved RNA-binding proteins essential for germ cell development. NANOS3 is specifically expressed in primordial germ cells and is required for their migration and survival during embryogenesis. It functions by repressing translation of target mRNAs through interaction with the CCR4-NOT deadenylase complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Premature ovarian failure 9 (POF9) | Loss-of-function mutations impair germ cell maintenance, leading to ovarian insufficiency | OMIM #618665 |
| Non-obstructive azoospermia | NANOS3 variants disrupt spermatogonial stem cell self-renewal | ClinVar, PMID: 28335002 |
| Spermatogenic failure | Defective NANOS3 causes reduced germ cell number and impaired spermatogenesis | OMIM #608229 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
| Placenta | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hESC (H1) | 0.0 | Not expressed in undifferentiated cells |
| K562 | 0.0 | Not expressed |
| HeLa | 0.0 | Not expressed |
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, likely loss of function |
| c.2T>C (p.Met1Thr) | Missense | Rare | Loss of start codon, likely loss of function |
| c.3G>A (p.Met1Ile) | Missense | Rare | Loss of start codon, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
NANOS3 loss-of-function mutations impair germ cell migration and survival, leading to premature ovarian failure and spermatogenic defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for NANOS3.
Dominant Negative (DN)
No dominant-negative mutations have been described for NANOS3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Germ cell development (Reactome: R-HSA-419037)
• CCR4-NOT complex mediated deadenylation (Reactome: R-HSA-429958)
Protein Summary
NANOS3 is a 173-amino acid protein containing two C2HC-type zinc finger domains that mediate RNA binding. It localizes to the cytoplasm and interacts with the CCR4-NOT deadenylase complex to repress translation of specific mRNAs involved in germ cell differentiation and maintenance. NANOS3 is essential for the survival and migration of primordial germ cells during embryonic development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NANOS3 Knockout HEK293 Cell Line | EDJ-KQ14371 | Human | 342977 | Details Get a Quote |
| NANOS3 Knockout A-549 Cell Line | EDJ-KQ44511 | Human | 342977 | Details Get a Quote |
| NANOS3 Knockout HeLa Cell Line | EDJ-KQ44512 | Human | 342977 | Details Get a Quote |
| NANOS3 Knockout HCT 116 Cell Line | EDJ-KQ76586 | Human | 342977 | Details Get a Quote |
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