Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 85378
MIM: 610053
HGNC: 18127
Ensembl: ENSG00000128159
Variants:
dbSNP: 85378
ClinVar: 85378
TCGA: ENSG00000128159
COSMIC: TUBGCP6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000128159 | ENST00000248846 | Q96RT7 |
| ENSG00000128159 | ENST00000425018 | H7C2H5 |
| ENSG00000128159 | ENST00000434349 | H7C358 |
| ENSG00000128159 | ENST00000439308 | E7EQL8 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37031378 | 2023 | Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review. | 0 |
| 37031378 | 2023 | Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review. | 0 |
| 34954520 | 2022 | SF3B14 is involved in the centrosome regulation through splicing of TUBGCP6 pre-mRNA. | 1 |
| 34954520 | 2022 | SF3B14 is involved in the centrosome regulation through splicing of TUBGCP6 pre-mRNA. | 1 |
| 33137195 | 2020 | Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy. | 11 |
| 33137195 | 2020 | Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy. | 11 |
| 31077665 | 2019 | Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly. | 11 |
| 31077665 | 2019 | Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly. | 11 |
| 22279524 | 2012 | Genetic mapping and exome sequencing identify variants associated with five novel diseases. | 145 |
| 22302995 | 2012 | GCP6 is a substrate of Plk4 and required for centriole duplication. | 44 |
| 22279524 | 2012 | Genetic mapping and exome sequencing identify variants associated with five novel diseases. | 145 |
| 22302995 | 2012 | GCP6 is a substrate of Plk4 and required for centriole duplication. | 44 |
| 20205591 | 2010 | Host determinants of HIV-1 control in African Americans. | 91 |
| 20205591 | 2010 | Host determinants of HIV-1 control in African Americans. | 91 |
| 17182859 | 2007 | GCP6 binds to intermediate filaments: a novel function of keratins in the organization of microtubules in epithelial cells. | 21 |
Citation
Dessen P
TUBGCP6 (tubulin gamma complex associated protein 6)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75375/
