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.

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 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
Displaying Records 1 To 4 Of 4 Records
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