TUBGCP6 Gene - Tubulin Gamma Complex Component 6
Essential regulator of centrosome structure and microtubule nucleation
Gene Information Card
| Symbol | TUBGCP6 |
|---|---|
| Full Name | Tubulin Gamma Complex Component 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 85378 ncbi.nlm.nih.gov/gene/85378 |
| Ensembl ID | ENSG00000128272 |
| UniProt ID | Q96RT7 |
| OMIM ID | 610053 |
| HGNC ID | 18127 |
| Aliases | GCP6, GCP-6, MCPH, MCPH3 |
Description
TUBGCP6 encodes a component of the gamma-tubulin ring complex (γ-TuRC), which is essential for microtubule nucleation and centrosome function. The protein localizes to the centrosome and is required for proper mitotic spindle assembly and cell division. Mutations in TUBGCP6 cause autosomal recessive primary microcephaly with or without chorioretinopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly (MCPH) | Loss-of-function mutations impair centrosome duplication and microtubule nucleation, leading to reduced neuronal progenitor proliferation | OMIM #610053; multiple families reported |
| Microcephaly with chorioretinopathy | Disrupted centrosome function affects retinal development and brain growth | Case reports in ClinVar and literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.1 | Medium |
| Lymph node | 6.5 | Low |
| Bone marrow | 5.2 | Low |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 10.8 | Medium expression |
| K562 | 7.1 | Low expression |
| HepG2 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2101C>T (p.Arg701*) | Nonsense | Rare | Loss of function; truncated protein |
| c.3250_3251del (p.Leu1084Valfs*3) | Frameshift | Rare | Loss of function; premature stop |
| c.4372C>T (p.Arg1458*) | Nonsense | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature termination codons and nonsense-mediated decay or truncated non-functional protein.
Gain of Function (GOF)
Not reported for TUBGCP6.
Dominant Negative (DN)
Not reported; all known pathogenic mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • zinc ion binding (GO:0008270) |
| • microtubule nucleation (GO:0007020) | • microtubule organizing center (GO:0005815) |
| • protein binding (GO:0005515) | • spindle pole (GO:0000922) |
Pathways
• Microtubule nucleation by gamma-tubulin ring complex (γ-TuRC)
• Centrosome maturation and duplication
• Cell cycle
• mitotic
Protein Summary
TUBGCP6 (GCP6) is a 1,682-amino-acid protein that serves as a structural component of the γ-tubulin ring complex (γ-TuRC). It contains a conserved GCP6 domain and zinc-binding motifs. The protein is essential for anchoring γ-tubulin at the centrosome and for efficient microtubule nucleation. Loss of TUBGCP6 function leads to centrosome abnormalities, impaired mitotic progression, and reduced brain size.
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