NUP210: Nuclear Pore Complex Protein NUP210
A key component of the nuclear pore complex involved in nucleocytoplasmic transport and implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | NUP210 |
|---|---|
| Full Name | nucleoporin 210 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p25.1 |
| NCBI Gene ID | 23225 ncbi.nlm.nih.gov/gene/23225 |
| Ensembl ID | ENSG00000132182 |
| UniProt ID | Q8TEM1 |
| OMIM ID | 607703 |
| HGNC ID | 8069 |
| Aliases | GP210, POM210, KIAA0906 |
Description
NUP210 encodes a 210 kDa glycoprotein that is a major component of the nuclear pore complex (NPC). It is an integral membrane protein localized to the pore membrane domain, where it anchors the NPC to the nuclear envelope. NUP210 is essential for nuclear pore assembly and mediates nucleocytoplasmic transport of macromolecules. It also plays roles in cell cycle regulation, differentiation, and immune signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of NUP210 promotes cell proliferation and metastasis through altered nuclear transport and signaling pathways. | COSMIC; PMID: 25691885 |
| Colorectal cancer | NUP210 mutations and copy number alterations are associated with poor prognosis and chemoresistance. | COSMIC; PMID: 29395067 |
| Primary biliary cholangitis | Autoantibodies against NUP210 (anti-gp210) are a diagnostic marker and correlate with disease severity. | OMIM: 607703; PMID: 15014178 |
| Developmental disorders | De novo missense variants in NUP210 are linked to intellectual disability and microcephaly. | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 10.5 | Medium |
| Breast | 8.3 | Low |
| Colon | 7.1 | Low |
| Brain | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.6 | Cervical cancer cell line |
| A549 | 16.2 | Lung adenocarcinoma cell line |
| HepG2 | 14.5 | Hepatocellular carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HT-29 | 7.4 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.2567_2568del (p.Leu856fs) | Frameshift | <0.01% | Loss of function; associated with developmental disorder |
| c.3456G>A (p.Trp1152*) | Nonsense | <0.01% | Loss of function; observed in colorectal cancer (COSMIC) |
| c.4567A>G (p.Asn1523Asp) | Missense | 0.05% | Gain of function?; recurrent in breast cancer (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Leu856fs, p.Trp1152*) are predicted to cause loss of function by truncating the protein, impairing NPC assembly and nuclear transport.
Gain of Function (GOF)
Missense mutations such as p.Asn1523Asp may confer gain of function by altering protein interactions, potentially promoting oncogenic signaling in breast cancer.
Dominant Negative (DN)
No dominant-negative mutations have been conclusively reported for NUP210.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • mRNA export | • protein import into nucleus |
| • cell cycle | • mitotic nuclear envelope disassembly |
| • integral component of membrane | • nuclear envelope |
Pathways
• Nuclear Pore Complex (NPC) Assembly
• Transport of Mature mRNA through the NPC
• Cell Cycle
• Mitotic
• HIV Life Cycle
Protein Summary
NUP210 (nucleoporin 210) is a 1889-amino acid transmembrane protein that forms part of the nuclear pore complex. It contains a large N-terminal domain exposed to the cytoplasm, a single transmembrane helix, and a short C-terminal tail in the perinuclear space. NUP210 is heavily glycosylated and is essential for NPC stability and function. It interacts with other nucleoporins and transport receptors to regulate the shuttling of proteins and RNAs between the nucleus and cytoplasm. Altered expression or mutations in NUP210 are linked to cancer progression and autoimmune disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUP210 Knockout HEK293 Cell Line | EDJ-KQ2205 | Human | 23225 | Details Get a Quote |
| NUP210L Knockout HEK293 Cell Line | EDJ-KQ10711 | Human | 91181 | Details Get a Quote |
| NUP210 Knockout A-549 Cell Line | EDJ-KQ22455 | Human | 23225 | Details Get a Quote |
| NUP210 Knockout HCT 116 Cell Line | EDJ-KQ22456 | Human | 23225 | Details Get a Quote |
| NUP210 Knockout HeLa Cell Line | EDJ-KQ22457 | Human | 23225 | Details Get a Quote |
| NUP210L Knockout HeLa Cell Line | EDJ-KQ57795 | Human | 91181 | Details Get a Quote |
| NUP210L Knockout A-549 Cell Line | EDJ-KQ66290 | Human | 91181 | Details Get a Quote |
| NUP210L Knockout HCT 116 Cell Line | EDJ-KQ74710 | Human | 91181 | Details Get a Quote |
