TPX2: Microtubule Nucleation Factor and Key Mitotic Regulator
A comprehensive biomedical overview of TPX2 (TPX2 Microtubule Nucleation Factor), including gene characteristics, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | TPX2 |
|---|---|
| Full Name | TPX2 Microtubule Nucleation Factor |
| Gene Type | Protein-coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 22974 ncbi.nlm.nih.gov/gene/22974 |
| Ensembl ID | ENSG00000088325 |
| UniProt ID | Q9ULW0 |
| OMIM ID | 605917 |
| HGNC ID | 1249 |
| Aliases | DIL-2, HCA519, REPP86, p100, C20orf1, DIL2, FLJ10270, GDDR, HCA519, REPP86, TPX2 |
Description
TPX2 (TPX2 Microtubule Nucleation Factor) encodes a protein essential for mitotic spindle assembly and microtubule nucleation. It activates the Aurora A kinase and targets it to spindle microtubules. TPX2 is overexpressed in various cancers and is implicated in tumorigenesis and chromosomal instability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | TPX2 overexpression promotes Aurora A activation and mitotic defects, leading to aneuploidy and tumor progression. | PubMed: 21502544; COSMIC: TPX2 overexpression in breast tumors. |
| Lung Cancer | TPX2 upregulation correlates with poor prognosis and increased cell proliferation via spindle checkpoint dysregulation. | PubMed: 23541953; NCBI Gene: expression data. |
| Colorectal Cancer | TPX2 amplification and overexpression contribute to chromosomal instability and metastasis. | PubMed: 25636874; COSMIC: TPX2 mutations in colorectal samples. |
| Hepatocellular Carcinoma | TPX2 overexpression is associated with aggressive tumor features and shortened survival. | PubMed: 27323851; UniProt: disease association. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Bone Marrow | 25.1 | High |
| Lymph Node | 18.7 | Medium |
| Spleen | 15.3 | Medium |
| Brain | 2.1 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical carcinoma) | 42.5 | High expression; mitotic regulation. |
| A549 (lung carcinoma) | 35.0 | Overexpressed; linked to proliferation. |
| MCF7 (breast carcinoma) | 28.3 | Elevated; associated with Aurora A. |
| HepG2 (hepatocellular carcinoma) | 30.1 | High; correlates with poor prognosis. |
| K562 (leukemia) | 22.4 | Moderate expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072G>A (p.Glu358Lys) | Missense | <0.1% | Unknown functional effect; reported in COSMIC. |
| c.1543C>T (p.Arg515Trp) | Missense | <0.1% | Potential impact on microtubule binding. |
| c.1966_1967insA (p.Thr656Asnfs*2) | Frameshift | <0.1% | Loss of function; truncation. |
| Amplification | Copy number gain | Common in cancers | Overexpression; oncogenic. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Thr656Asnfs*2) lead to truncated protein, impairing microtubule nucleation and mitotic spindle assembly.
Gain of Function (GOF)
Gene amplification and overexpression result in increased Aurora A activation, promoting mitotic defects and tumorigenesis.
Dominant Negative (DN)
Not well documented; missense variants may interfere with normal TPX2 function but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Aurora A signaling (Reactome: R-HSA-8854518)
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• Regulation of TPX2 degradation (Reactome: R-HSA-8852276)
• KEGG: Cell cycle (hsa04110)
Protein Summary
TPX2 is a 747-amino acid protein (UniProt Q9ULW0) that functions as a microtubule nucleation factor. It binds to and activates Aurora A kinase, targeting it to spindle microtubules during mitosis. TPX2 is essential for proper spindle assembly, chromosome segregation, and cytokinesis. Overexpression in cancers leads to mitotic errors and genomic instability.
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