TUBGCP4 Chromosome 15
Tubulin gamma complex component 4
Upload your DNA to see your personal genotypes for variants in TUBGCP4.
What This Gene Does
This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
Gene Info
Gene Group
Tubulin gamma complex component family
Locus Type
gene with protein product
Location
15q15.3
Ensembl
ENSG00000137822
Associated Conditions (5)
Inborn genetic diseases
Microcephaly and chorioretinopathy 3
Autosomal recessive chorioretinopathy-microcephaly syndrome
TUBGCP4-related disorder
See cases
Key Variants
RS200550774
Conflicting classifications of pathogenicity
Health Risk
RS201999864
Conflicting classifications of pathogenicity
Health Risk
RS745735883
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1196276711
Likely pathogenic
Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3
Health Risk
RS1360278309
Likely pathogenic
Health Risk
RS1555394706
Likely pathogenic
Health Risk
RS2142857246
Likely pathogenic
Health Risk
RS2142896980
Likely pathogenic
Health Risk
RS2542978730
Likely pathogenic
Health Risk
RS2543084151
Likely pathogenic
Health Risk
RS769827351
Likely pathogenic
Health Risk
RS774875526
Likely pathogenic
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200550774 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201999864 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS745735883 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1196276711 | Health Risk | Likely pathogenic | Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3 |
| RS1360278309 | Health Risk | Likely pathogenic | — |
| RS1555394706 | Health Risk | Likely pathogenic | — |
| RS2142857246 | Health Risk | Likely pathogenic | — |
| RS2142896980 | Health Risk | Likely pathogenic | — |
| RS2542978730 | Health Risk | Likely pathogenic | — |
| RS2543084151 | Health Risk | Likely pathogenic | — |
| RS769827351 | Health Risk | Likely pathogenic | — |
| RS774875526 | Health Risk | Likely pathogenic | — |
| RS1281303824 | Health Risk | Pathogenic | — |
| RS1303033636 | Health Risk | Pathogenic | — |
| RS1327512768 | Health Risk | Pathogenic | — |
| RS1376816910 | Health Risk | Pathogenic | — |
| RS1439555171 | Health Risk | Pathogenic | — |
| RS1595496969 | Health Risk | Pathogenic | Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3 |
| RS2044312352 | Health Risk | Pathogenic | — |
| RS2044596519 | Health Risk | Pathogenic | — |
| RS2142883686 | Health Risk | Pathogenic | — |
| RS2142883806 | Health Risk | Pathogenic | — |
| RS2142896446 | Health Risk | Pathogenic | — |
| RS2542961367 | Health Risk | Pathogenic | — |
| RS2543016641 | Health Risk | Pathogenic | — |
| RS2543061756 | Health Risk | Pathogenic | — |
| RS2543067973 | Health Risk | Pathogenic | — |
| RS2543072613 | Health Risk | Pathogenic | — |
| RS2543112047 | Health Risk | Pathogenic | — |
| RS750641485 | Health Risk | Pathogenic | — |
| RS751545508 | Health Risk | Pathogenic | — |
| RS755822321 | Health Risk | Pathogenic | Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3 |
| RS757367635 | Health Risk | Pathogenic | — |
| RS762571376 | Health Risk | Pathogenic | — |
| RS794726856 | Health Risk | Pathogenic | Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3 |
| RS886039671 | Health Risk | Pathogenic | — |
| RS945304215 | Health Risk | Pathogenic | — |
| RS200092283 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly and chorioretinopathy 3, Autosomal recessive chorioretinopathy-microcephaly syndrome, TUBGCP4-related disorder |
| RS2142767103 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |
| RS755174583 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3 |
| RS772200785 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3 |
| RS794726855 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3 |