TPPP3 Gene - Tubulin Polymerization Promoting Protein Family Member 3
A comprehensive biomedical resource for TPPP3, including gene information, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | TPPP3 |
|---|---|
| Full Name | Tubulin Polymerization Promoting Protein Family Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 51673 ncbi.nlm.nih.gov/gene/51673 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | Q9BW30 |
| OMIM ID | 610930 |
| HGNC ID | 24264 |
| Aliases | p25gamma, TPPP/p25, p25gamma, TPPP3 |
Description
TPPP3 (Tubulin Polymerization Promoting Protein Family Member 3) is a protein-coding gene. It encodes a member of the tubulin polymerization-promoting protein family, which is involved in microtubule dynamics and stabilization. The protein is primarily expressed in the brain and testis, and its dysregulation has been implicated in neurodegenerative diseases and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative diseases (e.g., Parkinson's disease) | TPPP3 may promote abnormal microtubule aggregation, contributing to Lewy body formation. | PMID: 20498393 |
| Glioblastoma | Overexpression of TPPP3 in glioblastoma cells may enhance cell proliferation and migration. | PMID: 25605274 |
| Testicular germ cell tumors | TPPP3 expression is altered in testicular tumors, potentially affecting microtubule dynamics. | PMID: 21252315 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Lung | 2.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in neurodegeneration studies |
| U87MG (glioblastoma) | 10.8 | Overexpressed; associated with tumor progression |
| HEK293 (embryonic kidney) | 3.4 | Moderate expression; common for recombinant studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Val72Met) | Missense | 0.01% (gnomAD) | Unknown; predicted benign by SIFT |
| c.328C>T (p.Arg110Cys) | Missense | 0.005% (gnomAD) | Unknown; predicted damaging by PolyPhen-2 |
| c.445_447del (p.Lys149del) | In-frame deletion | <0.001% (COSMIC) | Reported in colorectal cancer; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in TPPP3.
Gain of Function (GOF)
Overexpression in glioblastoma suggests potential gain-of-function in tumorigenesis.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • microtubule polymerization | • microtubule binding |
| • protein homodimerization activity | • cytoplasm |
| • cytoskeleton |
Pathways
• Microtubule dynamics
• Neurodegenerative diseases pathway
Protein Summary
TPPP3 encodes a 219-amino acid protein (UniProt Q9BW30) that promotes tubulin polymerization and stabilizes microtubules. It is highly expressed in brain and testis, and its dysregulation is linked to neurodegenerative diseases and cancer. The protein contains a p25alpha domain and interacts with tubulin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPPP3 Knockout HEK293 Cell Line | EDJ-KQ11185 | Human | 51673 | Details Get a Quote |
| TPPP3 Knockout A-549 Cell Line | EDJ-KQ39229 | Human | 51673 | Details Get a Quote |
| TPPP3 Knockout HeLa Cell Line | EDJ-KQ39230 | Human | 51673 | Details Get a Quote |
| TPPP3 Knockout HCT 116 Cell Line | EDJ-KQ73279 | Human | 51673 | Details Get a Quote |
