HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TUBGCP2
tubulin gamma complex component 2
Chromosome 10 · 10q26.3
NCBI Gene: 10844Ensembl: ENSG00000130640.16HGNC: HGNC:18599UniProt: Q53EQ3
112PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM 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
✦AI Summary

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.

Sources cited
1
TUBGCP2 encodes GCP2, a component of γ-TuRC that mediates microtubule nucleation and causes microcephaly/lissencephaly when mutated
PMID: 31630790
2
TUBGCP2 mutations disrupt electrostatic interactions in γ-TuRC and dysregulate cytoskeletal and neuronal proteins
PMID: 33458610
3
TUBGCP2 variants cause cortical malformations and can be associated with thick corpus callosum
PMID: 40448381
4
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.
Disease Associationsⓘ21
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizuresOpen Targets
0.71Strong
Abnormality of neuronal migrationOpen Targets
0.38Weak
influenza A (H1N1)Open Targets
0.17Weak
melanomaOpen Targets
0.08Suggestive
Gorham-Stout diseaseOpen Targets
0.07Suggestive
small cell lung carcinomaOpen Targets
0.07Suggestive
microcephalyOpen Targets
0.04Suggestive
melorheostosisOpen Targets
0.04Suggestive
osteoarthritisOpen Targets
0.03Suggestive
vitreous body diseaseOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
lissencephaly spectrum disordersOpen Targets
0.02Suggestive
glioblastomaOpen Targets
0.02Suggestive
inflammatory bowel diseaseOpen Targets
0.01Suggestive
endometriosisOpen Targets
0.01Suggestive
obstructive sleep apneaOpen Targets
0.01Suggestive
neuromyelitis opticaOpen Targets
0.01Suggestive
Aarskog-Scott syndrome, X-linkedOpen Targets
0.01Suggestive
tubulinopathyOpen Targets
0.01Suggestive
gingivitisOpen Targets
0.01Suggestive
Cortical dysplasia, complex, with other brain malformations 15UniProt
Pathogenic Variants2
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
View on ClinVar ↗
Related Genes
PCNTProtein interaction100%MZT1Protein interaction100%MZT2BProtein interaction99%NME7Protein interaction92%MZT2AProtein interaction92%TUBGCP4Protein interaction92%
Tissue Expression6 tissues
Ovary
100%
Lung
89%
Bone Marrow
88%
Liver
81%
Heart
61%
Brain
57%
Gene Interaction Network
Click a node to explore
TUBGCP2PCNTMZT1MZT2BNME7MZT2ATUBGCP4
PROTEIN STRUCTURE
Preparing viewer…
PDB8RX1 · 3.57 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.49–0.76]
RankingsWhere TUBGCP2 stands among ~20K protein-coding genes
  • #4,253of 20,598
    Most Researched112 · top quartile
  • #4,297of 5,498
    Most Pathogenic Variants2
  • #6,115of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedTUBGCP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Anti-Cancer Potential of a new Derivative of Caffeic Acid Phenethyl Ester targeting the Centrosome.
PMID: 40073758
Redox Biol · 2025
1.00
2
Thick Corpus Callosum: An Unusual Finding of TUBGCP2-Related Tubulinopathy.
PMID: 40448381
Am J Med Genet A · 2025
0.90
3
Autosomal recessive variants in
PMID: 33458610
iScience · 2021
0.80
4
Somatic A-to-I RNA-edited RHOA isoform 2 specific-R176G mutation promotes tumor progression in lung adenocarcinoma.
PMID: 36453714
Mol Carcinog · 2023
0.70
5
Silencing of Taxol-Sensitizer Genes in Cancer Cells: Lack of Sensitization Effects.
PMID: 26086592
Cancers (Basel) · 2015
0.60