TUBGCP4 Gene
Tubulin Gamma Complex Component 4
Gene Information Card
| Symbol | TUBGCP4 |
|---|---|
| Full Name | Tubulin Gamma Complex Component 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q11.2 |
| NCBI Gene ID | 27244 ncbi.nlm.nih.gov/gene/27244 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9UGJ1 |
| OMIM ID | 609750 |
| HGNC ID | 18510 |
| Aliases | GCP4, 76P, FLJ14797, gamma-tubulin complex component 4 |
Description
TUBGCP4 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 TUBGCP4 are associated with autosomal recessive primary microcephaly and chorioretinopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, primary, autosomal recessive, with chorioretinopathy | Loss of function disrupts centrosome integrity and microtubule nucleation, impairing neurogenesis | OMIM #251270; ClinVar pathogenic variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lymph node | 8.9 | Low |
| Ovary | 7.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Moderate expression |
| HeLa | 12.8 | Moderate expression |
| K562 | 9.4 | Low expression |
| HepG2 | 6.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.745C>T (p.Arg249*) | Nonsense | Rare | Loss of function; truncation |
| c.1072C>T (p.Arg358Trp) | Missense | Rare | Likely damaging; disrupts protein interaction |
| c.1333G>A (p.Gly445Arg) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of γ-TuRC function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • zinc ion binding (GO:0008270) |
| • microtubule organizing center (GO:0005815) | • microtubule nucleation (GO:0007020) |
| • gamma-tubulin binding (GO:0043015) |
Pathways
• Microtubule nucleation (Reactome R-HSA-380259)
• Centrosome maturation (Reactome R-HSA-380270)
Protein Summary
TUBGCP4 (GCP4) is a 76 kDa component of the gamma-tubulin ring complex (γ-TuRC). It is essential for microtubule nucleation at centrosomes and spindle assembly. The protein contains a conserved GCP4 domain and interacts with other γ-TuRC subunits. Loss of function leads to centrosome abnormalities and impaired neurogenesis, underlying microcephaly.
Related Services
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