TPGS2 (Tubulin Polyglutamylase Complex Subunit 2)
A key regulator of tubulin polyglutamylation, involved in microtubule stability and neuronal function.
Gene Information Card
| Symbol | TPGS2 |
|---|---|
| Full Name | Tubulin Polyglutamylase Complex Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q12.1 |
| NCBI Gene ID | 729920 ncbi.nlm.nih.gov/gene/729920 |
| Ensembl ID | ENSG00000187764 |
| UniProt ID | Q8N2M8 |
| OMIM ID | 617848 |
| HGNC ID | 28370 |
| Aliases | C18orf10, FLJ22604, PGs2 |
Description
TPGS2 encodes a subunit of the tubulin polyglutamylase complex, which catalyzes the addition of glutamate side chains to tubulin. This post-translational modification is critical for microtubule stability, dynamics, and function, particularly in neurons and cilia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) | Loss-of-function mutations in TPGS2 impair tubulin polyglutamylation, leading to microtubule dysfunction in motor neurons and neuronal hyperexcitability. | ClinVar, OMIM |
| Primary microcephaly | Biallelic TPGS2 variants disrupt centrosomal microtubule organization, reducing neuronal progenitor proliferation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 10.8 | Medium |
| Heart | 6.3 | Low |
| Liver | 2.1 | Low |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.0 | Neuronal model |
| HeLa (cervical carcinoma) | 8.5 | Epithelial |
| HEK293 (embryonic kidney) | 7.2 | Commonly used for overexpression |
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.226C>T (p.Arg76Trp) | Missense | <0.01% | Impaired complex assembly |
| c.487_488del (p.Leu163fs) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in TPGS2 cause SMA-PME and microcephaly by disrupting tubulin polyglutamylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule (GO:0005874) | • centrosome (GO:0005813) |
| • microtubule cytoskeleton organization (GO:0000226) | • protein polyglutamylation (GO:0018095) |
| • cytoskeleton (GO:0005856) |
Pathways
• Tubulin polyglutamylation (Reactome: R-HSA-8955332)
• Microtubule dynamics (KEGG: hsa04540)
Protein Summary
TPGS2 is a 748-amino acid protein that forms part of the tubulin polyglutamylase complex. It localizes to centrosomes and microtubules, facilitating the addition of polyglutamate chains to alpha- and beta-tubulin. This modification is essential for microtubule stability, neuronal migration, and ciliary function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPGS2 Knockout HEK293 Cell Line | EDJ-KQ7627 | Human | 25941 | Details Get a Quote |
| TPGS2 Knockout A-549 Cell Line | EDJ-KQ34293 | Human | 25941 | Details Get a Quote |
| TPGS2 Knockout HCT 116 Cell Line | EDJ-KQ34295 | Human | 25941 | Details Get a Quote |
| TPGS2 Knockout HeLa Cell Line | EDJ-KQ34296 | Human | 25941 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
