NXF2B: Nuclear RNA Export Factor 2B
A testis-specific member of the NXF family involved in mRNA export and spermatogenesis.
Gene Information Card
| Symbol | NXF2B |
|---|---|
| Full Name | Nuclear RNA Export Factor 2B |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 100132247 ncbi.nlm.nih.gov/gene/100132247 |
| Ensembl ID | ENSG00000203812 |
| UniProt ID | Q9H0D6 |
| OMIM ID | 300470 |
| HGNC ID | 33839 |
| Aliases | TAP-2, NXF2, TAPL-2 |
Description
NXF2B (nuclear RNA export factor 2B) is a protein-coding gene belonging to the NXF family of RNA export factors. It is predominantly expressed in the testis and plays a role in the nuclear export of mRNA, particularly during spermatogenesis. The protein contains a leucine-rich repeat domain and an RNA-binding domain, facilitating interaction with RNA and nuclear pore components.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia) | Defective mRNA export in spermatids leading to impaired spermatogenesis | ClinVar; limited case reports |
| Spermatogenic failure | Reduced NXF2B expression disrupts RNA transport in germ cells | OMIM #300470 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 0.2 | Not detected |
| Liver | 0.1 | Not detected |
| Heart | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.3 | Moderate expression |
| HEK293 | 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 | <0.01% | Likely loss of start codon; predicted loss of function |
| c.245C>T (p.Pro82Leu) | Missense | <0.01% | Unknown significance; rare variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in NXF2B are associated with impaired mRNA export in testis, potentially leading to spermatogenic arrest.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • nuclear export |
| • mRNA transport | • nucleocytoplasmic transport |
| • spermatogenesis |
Pathways
• mRNA export from nucleus
• RNA transport
Protein Summary
The NXF2B protein (UniProt Q9H0D6) is a 619-amino acid nuclear RNA export factor. It contains an N-terminal leucine-rich repeat domain for protein-protein interactions and a C-terminal RNA-binding domain. It mediates the export of mRNA from the nucleus to the cytoplasm, specifically in testicular germ cells. The protein is localized to the nucleus and interacts with nucleoporins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NXF2B Knockout HEK293 Cell Line | EDJ-KQ14531 | Human | 728343 | Details Get a Quote |
| NXF2B Knockout HeLa Cell Line | EDJ-KQ60703 | Human | 728343 | Details Get a Quote |
| NXF2B Knockout A-549 Cell Line | EDJ-KQ69175 | Human | 728343 | Details Get a Quote |
| NXF2B Knockout HCT 116 Cell Line | EDJ-KQ77529 | Human | 728343 | Details Get a Quote |
