Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23483
Gene name Gene Name - the full gene name approved by the HGNC.
TDP-glucose 4,6-dehydratase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TGDS
Synonyms (NCBI Gene) Gene synonyms aliases
CATMANS, SDR2E1, TDPGD
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs140430952 C>A,T Pathogenic Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs544436734 A>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs724160004 T>C Pathogenic Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs724160005 T>C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs727502808 A>C,G Pathogenic Intron variant, non coding transcript variant, synonymous variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023189 hsa-miR-124-3p Microarray 18668037
MIRT1420993 hsa-miR-1179 CLIP-seq
MIRT1420994 hsa-miR-4272 CLIP-seq
MIRT1420995 hsa-miR-4422 CLIP-seq
MIRT1420996 hsa-miR-95 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0008460 Function DTDP-glucose 4,6-dehydratase activity IBA
GO:0008460 Function DTDP-glucose 4,6-dehydratase activity IEA
GO:0009225 Process Nucleotide-sugar metabolic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616146 20324 ENSG00000088451
Protein
UniProt ID O95455
Protein name dTDP-D-glucose 4,6-dehydratase (EC 4.2.1.46)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16363 GDP_Man_Dehyd 21 327 GDP-mannose 4,6 dehydratase Domain
Sequence
Sequence length 350
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of nucleotide sugars
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Catel Manzke Syndrome catel-manzke syndrome rs140430952, rs544436734, rs724160004, rs727502808, rs724160005 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Triglyceride levels in non-type 2 diabetes N/A N/A GWAS