NXT2 (Nuclear Transport Factor 2 Like Export Factor 2)
A key regulator of nuclear export, implicated in neurodevelopmental disorders and ciliopathies.
Gene Information Card
| Symbol | NXT2 |
|---|---|
| Full Name | Nuclear Transport Factor 2 Like Export Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq23 |
| NCBI Gene ID | 55916 ncbi.nlm.nih.gov/gene/55916 |
| Ensembl ID | ENSG00000101888 |
| UniProt ID | Q9NPJ8 |
| OMIM ID | 300497 |
| HGNC ID | 30097 |
| Aliases | P15-2, NTF2-related export protein 2 |
Description
NXT2 encodes a member of the NTF2-like family of proteins that functions as a nuclear export factor. It forms a heterodimer with NXF1 (TAP) to mediate the export of mRNA from the nucleus to the cytoplasm. NXT2 is also involved in the nuclear export of proteins bearing a leucine-rich nuclear export signal (NES). Mutations in NXT2 have been linked to neurodevelopmental disorders and ciliary dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and speech delay | Loss-of-function mutations impair mRNA export, leading to neuronal dysfunction | ClinVar; PMID: 31006510 |
| Primary ciliary dyskinesia-like phenotype | Defective nuclear export of ciliary proteins disrupts cilia assembly | OMIM; PMID: 31006510 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.3 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| SH-SY5Y | 7.4 | Neuroblastoma cells |
| HeLa | 6.9 | Cervical cancer cells |
| HepG2 | 5.2 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.316C>T (p.Arg106*) | Nonsense | Rare | Loss of function; premature termination |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Impaired NXF1 binding; reduced export activity |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing nuclear export.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg166Gln) may act dominant-negative by sequestering NXF1.
View complete mutation data：
Gene Ontology (GO)
| • nuclear export | • mRNA export from nucleus |
| • protein transport | • nucleocytoplasmic transport |
| • binding |
Pathways
• mRNA export pathway
• Nuclear transport (NES-dependent)
Protein Summary
NXT2 is a 140-amino acid protein that belongs to the NTF2-like family. It contains a conserved NTF2 domain that mediates heterodimerization with NXF1. The protein localizes to the nuclear pore complex and facilitates the export of mRNA and NES-containing proteins. Structural studies show that NXT2 binding to NXF1 enhances its affinity for RNA cargo.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NXT2 Knockout HEK293 Cell Line | EDJ-KQ14536 | Human | 55916 | Details Get a Quote |
| NXT2 Knockout A-549 Cell Line | EDJ-KQ44817 | Human | 55916 | Details Get a Quote |
| NXT2 Knockout HeLa Cell Line | EDJ-KQ44819 | Human | 55916 | Details Get a Quote |
| NXT2 Knockout HCT 116 Cell Line | EDJ-KQ43566 | Human | 55916 | Details Get a Quote |
