TUBGCP2 Chromosome 10
Tubulin gamma complex component 2
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What This Gene Does
Predicted to enable gamma-tubulin binding activity. Predicted to contribute to microtubule minus-end binding activity. Involved in brain development and neuron migration. Located in centrosome; ciliary basal body; and nucleoplasm. Implicated in pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Tubulin gamma complex component family
Locus Type
gene with protein product
Location
10q26.3
Ensembl
ENSG00000130640
Associated Conditions (8)
Pachygyria
microcephaly
developmental delay
and dysmorphic facies
with or without seizures
Abnormality of neuronal migration
TUBGCP2-related disorder
Malignant tumor of esophagus
Key Variants
RS1449999247
Conflicting classifications of pathogenicity
Pachygyria, microcephaly, developmental delay
Health Risk
RS145657678
Conflicting classifications of pathogenicity
Health Risk
RS147917925
Conflicting classifications of pathogenicity
Health Risk
RS199910091
Conflicting classifications of pathogenicity
TUBGCP2-related disorder, Malignant tumor of esophagus, TUBGCP2-related disorder
Health Risk
RS200129338
Conflicting classifications of pathogenicity
Pachygyria, microcephaly, developmental delay
Health Risk
RS748286228
Conflicting classifications of pathogenicity
Pachygyria, microcephaly, developmental delay
Health Risk
RS763452490
Conflicting classifications of pathogenicity
Pachygyria, microcephaly, developmental delay
Health Risk
RS1589822227
Pathogenic
Pachygyria, microcephaly, developmental delay
Health Risk
RS2493637870
Pathogenic
Pachygyria, microcephaly, developmental delay
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1449999247 | Health Risk | Conflicting classifications of pathogenicity | Pachygyria, microcephaly, developmental delay |
| RS145657678 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147917925 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199910091 | Health Risk | Conflicting classifications of pathogenicity | TUBGCP2-related disorder, Malignant tumor of esophagus, TUBGCP2-related disorder |
| RS200129338 | Health Risk | Conflicting classifications of pathogenicity | Pachygyria, microcephaly, developmental delay |
| RS748286228 | Health Risk | Conflicting classifications of pathogenicity | Pachygyria, microcephaly, developmental delay |
| RS763452490 | Health Risk | Conflicting classifications of pathogenicity | Pachygyria, microcephaly, developmental delay |
| RS1589822227 | Health Risk | Pathogenic | Pachygyria, microcephaly, developmental delay |
| RS2493637870 | Health Risk | Pathogenic | Pachygyria, microcephaly, developmental delay |