NUP205: Nucleoporin 205
A key component of the nuclear pore complex involved in nucleocytoplasmic transport and linked to nephrotic syndrome and cancer.
Gene Information Card
| Symbol | NUP205 |
|---|---|
| Full Name | Nucleoporin 205 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q33 |
| NCBI Gene ID | 23165 ncbi.nlm.nih.gov/gene/23165 |
| Ensembl ID | ENSG00000155561 |
| UniProt ID | Q92621 |
| OMIM ID | 607617 |
| HGNC ID | 18628 |
| Aliases | C7orf14, NUP205, nucleoporin 205kDa |
Description
NUP205 encodes a 205 kDa nucleoporin, a component of the nuclear pore complex (NPC). It is essential for nucleocytoplasmic transport, particularly of large macromolecules, and plays a role in cell cycle regulation and gene expression. Mutations in NUP205 are associated with steroid-resistant nephrotic syndrome and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrotic syndrome, type 13 | Loss-of-function mutations impair NPC function, disrupting glomerular filtration barrier integrity | ClinVar, OMIM |
| Acute lymphoblastic leukemia | Somatic mutations and copy number alterations may affect nuclear transport and drug sensitivity | COSMIC, NCBI |
| Breast cancer | Overexpression and mutations linked to altered nuclear transport and cell proliferation | COSMIC, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Lung | 8.2 | Low |
| Brain | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | High expression |
| HeLa | 11.0 | Medium expression |
| K562 | 9.5 | Medium expression |
| MCF7 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.350C>T (p.Thr117Met) | Missense | Rare | Potential loss of function in nephrotic syndrome |
| c.1234G>A (p.Glu412Lys) | Missense | Rare | Uncertain significance |
| c.4567_4568insA | Frameshift | Very rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in NUP205 are predicted to cause loss of function, leading to impaired NPC assembly and transport.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting NPC integrity.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • protein transport | • mRNA export |
| • cell cycle |
Pathways
• Nuclear Pore Complex (NPC) assembly
• Nucleocytoplasmic transport
• Cell cycle
• mitotic
Protein Summary
Nucleoporin 205 (NUP205) is a 205 kDa protein localized to the nuclear pore complex. It contains multiple phenylalanine-glycine (FG) repeats and interacts with other nucleoporins to form the central channel. It is critical for selective transport of proteins and RNAs between nucleus and cytoplasm.
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