TUBG2: Tubulin Gamma 2
A centrosomal microtubule nucleator involved in cell division and genomic stability
Gene Information Card
| Symbol | TUBG2 |
|---|---|
| Full Name | Tubulin Gamma 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 27175 ncbi.nlm.nih.gov/gene/27175 |
| Ensembl ID | ENSG00000137070 |
| UniProt ID | Q9NRH3 |
| OMIM ID | 605740 |
| HGNC ID | 20761 |
| Aliases | CDCBM4, GCP-2, gamma-tubulin 2 |
Description
TUBG2 encodes gamma-tubulin 2, a member of the tubulin superfamily. Gamma-tubulin is a core component of the centrosome and is essential for microtubule nucleation and organization. TUBG2 is highly similar to TUBG1 and both are required for proper mitotic spindle assembly and cell division. Mutations in TUBG2 are associated with complex cortical malformations and microcephaly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Complex cortical malformation with microcephaly (CDCBM4) | Loss-of-function mutations impair microtubule nucleation at centrosomes, disrupting neuronal migration and cortical development | OMIM #605740; ClinVar |
| Primary microcephaly | Defective centrosome function leads to reduced neural progenitor proliferation | OMIM #605740; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lymph node | 6.1 | Low |
| Bone marrow | 5.4 | Low |
| Ovary | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical carcinoma; high expression |
| HEK 293 | 10.1 | Embryonic kidney; moderate expression |
| K562 | 8.7 | Leukemia; moderate expression |
| A549 | 7.3 | Lung carcinoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.758G>A (p.Arg253His) | Missense | Rare | Impaired gamma-tubulin ring complex assembly; associated with microcephaly |
| c.1066C>T (p.Arg356Trp) | Missense | Rare | Disrupted microtubule nucleation; linked to cortical malformation |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg253His) reduce gamma-tubulin activity, impairing centrosome function and microtubule nucleation.
Gain of Function (GOF)
Not reported for TUBG2.
Dominant Negative (DN)
Heterozygous missense variants may exert dominant-negative effects by disrupting gamma-tubulin ring complex assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Microtubule nucleation (Reactome: R-HSA-380259)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
• Centrosome maturation (Reactome: R-HSA-380270)
Protein Summary
Gamma-tubulin 2 (UniProt Q9NRH3) is a 451-amino acid protein that localizes to the centrosome and forms part of the gamma-tubulin ring complex (gamma-TuRC). It nucleates microtubule polymerization from the centrosome, essential for mitotic spindle formation and cell division. TUBG2 shares 98% sequence identity with TUBG1 and is expressed in a wide range of tissues, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBG2 Knockout HEK293 Cell Line | EDJ-KQ8708 | Human | 27175 | Details Get a Quote |
| TUBG2 Knockout A-549 Cell Line | EDJ-KQ34936 | Human | 27175 | Details Get a Quote |
| TUBG2 Knockout HCT 116 Cell Line | EDJ-KQ34937 | Human | 27175 | Details Get a Quote |
| TUBG2 Knockout HeLa Cell Line | EDJ-KQ34938 | Human | 27175 | Details Get a Quote |
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