NUP42 (Nucleoporin 42)
A component of the nuclear pore complex involved in nucleocytoplasmic transport and implicated in developmental disorders.
Gene Information Card
| Symbol | NUP42 |
|---|---|
| Full Name | nucleoporin 42 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 3486 ncbi.nlm.nih.gov/gene/3486 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | O15504 |
| OMIM ID | 604787 |
| HGNC ID | 8065 |
| Aliases | NUP42, hCG_17419, NUP42P, NUP42L |
Description
NUP42 encodes a 42 kDa nucleoporin, a component of the nuclear pore complex (NPC). The protein is localized to the cytoplasmic face of the NPC and is involved in mRNA export and nucleocytoplasmic transport. It interacts with the nuclear export factor NXF1 (TAP) and is essential for proper cellular trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy | Loss-of-function mutations in NUP42 disrupt nuclear pore function, impairing neuronal mRNA export and leading to synaptic dysfunction. | ClinVar, OMIM |
| Intellectual disability | Heterozygous missense variants in NUP42 are associated with non-syndromic intellectual disability, likely due to altered nucleoporin interactions. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| SH-SY5Y | 14.8 | High expression in neuronal model |
| HeLa | 7.5 | 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, likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Alters NPC localization, dominant negative effect |
| c.487_489del (p.Lys163del) | In-frame deletion | Rare | Disrupts NXF1 binding, impairs mRNA export |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to premature termination or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants (e.g., p.Arg109Trp) that disrupt NPC assembly or transport without complete loss of protein.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • mRNA export from nucleus | • protein transport |
| • cytoplasmic side of nuclear pore |
Pathways
• Nuclear Pore Complex (NPC) assembly
• mRNA export pathway
• Nucleocytoplasmic transport
Protein Summary
NUP42 is a 42 kDa nucleoporin located on the cytoplasmic side of the nuclear pore complex. It contains a coiled-coil domain and a FG-repeat region, mediating interactions with transport receptors such as NXF1. The protein is critical for mRNA export and cellular homeostasis. Mutations in NUP42 are linked to neurodevelopmental disorders, highlighting its role in neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUP42 Knockout HEK293 Cell Line | EDJ-KQ7283 | Human | 11097 | Details Get a Quote |
| NUP42 Knockout A-549 Cell Line | EDJ-KQ32312 | Human | 11097 | Details Get a Quote |
| NUP42 Knockout HCT 116 Cell Line | EDJ-KQ32313 | Human | 11097 | Details Get a Quote |
| NUP42 Knockout HeLa Cell Line | EDJ-KQ32314 | Human | 11097 | Details Get a Quote |
