NXF2: Nuclear RNA Export Factor 2
A testis-specific mRNA export factor with roles in spermatogenesis and potential links to male infertility
Gene Information Card
| Symbol | NXF2 |
|---|---|
| Full Name | Nuclear RNA Export Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 56001 ncbi.nlm.nih.gov/gene/56001 |
| Ensembl ID | ENSG00000102383 |
| UniProt ID | Q9H0D6 |
| OMIM ID | 300473 |
| HGNC ID | 8072 |
| Aliases | TAPL, NXF2A, NXF2B |
Description
NXF2 (Nuclear RNA Export Factor 2) encodes a testis-specific member of the NXF family of RNA export factors. The protein mediates the nuclear export of mRNA by binding to RNA and interacting with the nuclear pore complex. NXF2 is predominantly expressed in the testis and is essential for spermatogenesis. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure (non-obstructive azoospermia) | Defective mRNA export in germ cells leads to impaired spermatogenesis | OMIM 300473; case-control studies show NXF2 deletions in infertile males |
| Male infertility (oligozoospermia) | Reduced NXF2 expression disrupts RNA transport in developing sperm | ClinVar; literature reports of reduced NXF2 transcript levels in infertile men |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Fallopian tube | 0.8 | Not detected |
| Prostate | 0.5 | Not detected |
| Ovary | 0.3 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.2 | Testis-derived germ cell tumor line |
| HEK293 | 0.1 | No significant expression |
| HeLa | 0.0 | No expression |
| K562 | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation; likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop; predicted loss of function |
| Whole gene deletion | Structural variant | 0.5% in infertile males | Complete loss of NXF2; associated with azoospermia |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing mRNA export in testis.
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)
| • mRNA export from nucleus (GO:0006406) | • nuclear pore complex (GO:0005643) |
| • RNA binding (GO:0003723) | • nucleocytoplasmic transport (GO:0006913) |
Pathways
• mRNA export from nucleus (Reactome R-HSA-72203)
• Transport of Mature mRNA (Reactome R-HSA-159230)
Protein Summary
NXF2 is a 619-amino acid protein containing an N-terminal RNA-binding domain and a C-terminal nucleoporin-binding domain. It functions as a homodimer to export mRNA through nuclear pores. Expression is restricted to testicular germ cells, where it is critical for the transport of spermatogenesis-related transcripts.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NXF2 Knockout HEK293 Cell Line | EDJ-KQ14530 | Human | 56001 | Details Get a Quote |
| NXF2B Knockout HEK293 Cell Line | EDJ-KQ14531 | Human | 728343 | Details Get a Quote |
| NXF2 Knockout HeLa Cell Line | EDJ-KQ56663 | Human | 56001 | Details Get a Quote |
| NXF2B Knockout HeLa Cell Line | EDJ-KQ60703 | Human | 728343 | Details Get a Quote |
| NXF2 Knockout A-549 Cell Line | EDJ-KQ65169 | Human | 56001 | Details Get a Quote |
| NXF2B Knockout A-549 Cell Line | EDJ-KQ69175 | Human | 728343 | Details Get a Quote |
| NXF2 Knockout HCT 116 Cell Line | EDJ-KQ73605 | Human | 56001 | Details Get a Quote |
| NXF2B Knockout HCT 116 Cell Line | EDJ-KQ77529 | Human | 728343 | Details Get a Quote |
