10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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112PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICALOMIM Disease Gene
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
brain developmentprotein bindingneuron migrationmembranepachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizuresAbnormality of neuronal migrationinfluenza A (H1N1)melanoma
TUBGCP2 encodes gamma-tubulin complex protein 2 (GCP2), a core component of the gamma-tubulin ring complex (γ-TuRC) that mediates microtubule nucleation at centrosomes 1. The protein regulates minus-end nucleation of alpha-beta tubulin heterodimers, which is critical for centrosome duplication and spindle formation during cell division 1. TUBGCP2 plays an essential role in neuronal migration and brain development, with the γ-TuRC complex controlling microtubule assembly necessary for proper cortical development 12. Bi-allelic pathogenic variants in TUBGCP2 cause autosomal recessive neurodevelopmental disorders characterized by microcephaly, lissencephaly spectrum malformations including pachygyria and subcortical band heterotopia, and developmental delay 13. These cortical malformations result from disrupted neuronal migration due to defective microtubule nucleation 1. Functional studies demonstrate that TUBGCP2 mutations affect electrostatic interactions within the γ-TuRC complex and dysregulate proteins involved in cytoskeletal assembly and neuronal homeostasis 2. The protein has also emerged as a potential therapeutic target, with compounds like CM14 showing anti-cancer activity through direct TUBGCP2 interaction in various malignancies 4.
1
TUBGCP2 encodes GCP2, a component of γ-TuRC that mediates microtubule nucleation and causes microcephaly/lissencephaly when mutated
PMID: 316307902
TUBGCP2 mutations disrupt electrostatic interactions in γ-TuRC and dysregulate cytoskeletal and neuronal proteins
PMID: 334586103
TUBGCP2 variants cause cortical malformations and can be associated with thick corpus callosum
PMID: 404483814
TUBGCP2 serves as a direct interaction partner for anti-cancer compounds in various malignancies
PMID: 40073758⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizuresOpen Targets
Abnormality of neuronal migrationOpen Targets
influenza A (H1N1)Open Targets
Gorham-Stout diseaseOpen Targets
small cell lung carcinomaOpen Targets
melorheostosisOpen Targets
osteoarthritisOpen Targets
vitreous body diseaseOpen Targets
lissencephaly spectrum disordersOpen Targets
inflammatory bowel diseaseOpen Targets
endometriosisOpen Targets
obstructive sleep apneaOpen Targets
neuromyelitis opticaOpen Targets
Aarskog-Scott syndrome, X-linkedOpen Targets
tubulinopathyOpen Targets
Cortical dysplasia, complex, with other brain malformations 15UniProt
NM_006659.4(TUBGCP2):c.931G>A (p.Glu311Lys)Pathogenic
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
☆☆☆☆2023→ Residue 311
NM_006659.4(TUBGCP2):c.2025-2A>GPathogenic
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures|Abnormality of neuronal migration
☆☆☆☆2023