Identity
HGNC
LOCATION
13q32.1
LOCUSID
ALIAS
CATMANS,SDR2E1,TDPGD
FUSION GENES
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: 23483
MIM: 616146
HGNC: 20324
Ensembl: ENSG00000088451
Variants:
dbSNP: 23483
ClinVar: 23483
TCGA: ENSG00000088451
COSMIC: TGDS
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000088451 | ENST00000261296 | O95455 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31769200 | 2020 | TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy. | 3 |
| 31833187 | 2020 | Catel-Manzke syndrome without Manzke dysostosis. | 1 |
| 31769200 | 2020 | TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy. | 3 |
| 31833187 | 2020 | Catel-Manzke syndrome without Manzke dysostosis. | 1 |
| 28422407 | 2017 | Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. | 4 |
| 28422407 | 2017 | Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. | 4 |
| 25480037 | 2014 | Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. | 20 |
| 25480037 | 2014 | Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. | 20 |
Citation
Dessen P
TGDS (TDP-glucose 4,6-dehydratase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74655/tgds-(tdp-glucose-4-6-dehydratase)
