TUBGCP2 Gene - γ-Tubulin Complex Component 2
Essential regulator of microtubule nucleation and centrosome function
Gene Information Card
| Symbol | TUBGCP2 |
|---|---|
| Full Name | Tubulin Gamma Complex Component 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 10844 ncbi.nlm.nih.gov/gene/10844 |
| Ensembl ID | ENSG00000130640 |
| UniProt ID | Q9BSJ2 |
| OMIM ID | 617173 |
| HGNC ID | 18599 |
| Aliases | GCP2, GCP-2, Spc97, hSpc97 |
Description
TUBGCP2 encodes a component of the γ-tubulin ring complex (γ-TuRC), which is essential for microtubule nucleation at centrosomes and spindle assembly during mitosis. The protein directly interacts with γ-tubulin and other complex members to form the template for microtubule growth. Mutations in TUBGCP2 are associated with microcephaly and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, short stature, and impaired intellectual development | Disruption of γ-TuRC assembly leading to defective centrosome function and mitotic errors | OMIM #617173; ClinVar pathogenic variants |
| Primary microcephaly (MCPH) | Impaired microtubule nucleation affecting neural progenitor cell division | Case reports with biallelic TUBGCP2 mutations |
| Cancer (various types) | Altered centrosome number and genomic instability due to TUBGCP2 dysregulation | COSMIC somatic mutations in breast, lung, and colorectal cancers |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 15.2 | Medium |
| Brain (cerebellum) | 12.8 | Medium |
| Lung | 8.4 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical carcinoma) | 18.3 | High expression |
| HEK293 (embryonic kidney) | 14.7 | Moderate expression |
| K562 (leukemia) | 11.2 | Moderate expression |
| A549 (lung carcinoma) | 9.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1105C>T (p.Arg369Trp) | Missense | Rare | Loss of γ-TuRC interaction, microcephaly |
| c.1486G>A (p.Gly496Arg) | Missense | Rare | Impaired centrosome localization, neurodevelopmental delay |
| c.2017C>T (p.Arg673*) | Nonsense | Very rare | Truncated protein, loss of function |
| c.1234A>G (p.Lys412Glu) | Missense | Somatic (COSMIC) | Unknown; found in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt γ-TuRC assembly or centrosome targeting lead to loss of microtubule nucleation capacity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Heterozygous missense variants may interfere with wild-type complex assembly, but dominant-negative effects are not well established.
View complete mutation data：
Gene Ontology (GO)
| • Microtubule nucleation (GO:0007020) | • Centrosome cycle (GO:0007098) |
| • Gamma-tubulin complex (GO:0008274) | • Spindle pole body (GO:0005819) |
| • Microtubule organizing center (GO:0005815) |
Pathways
• Microtubule nucleation by γ-tubulin ring complex (Reactome R-HSA-380259)
• Cell cycle
• mitotic (Reactome R-HSA-69278)
• Centrosome maturation (Reactome R-HSA-380284)
Protein Summary
TUBGCP2 (GCP2) is a 907-amino-acid protein that forms part of the γ-tubulin ring complex (γ-TuRC). It contains a conserved Grip1 and Grip2 domain that mediate interactions with γ-tubulin and other GCP proteins. The protein localizes to centrosomes and is required for proper spindle assembly and chromosome segregation. Loss of function leads to mitotic defects and is linked to microcephaly and cancer.
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