TGDS (TDP-glucose 4,6-dehydratase)

Gene

• Entrez ID: 23483
• Gene name: TDP-glucose 4,6-dehydratase
• Gene symbol: TGDS
• Synonyms (NCBI Gene): CATMANS, SDR2E1, TDPGD
• Chromosome: 13
• Chromosome location: 13q32.1
• Summary: 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 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
rs727502809	CT>-	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant

miRNA

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
MIRT2126335	hsa-miR-579	CLIP-seq
MIRT2641096	hsa-miR-1304	CLIP-seq
MIRT2641097	hsa-miR-150	CLIP-seq
MIRT2641098	hsa-miR-1827	CLIP-seq
MIRT2641099	hsa-miR-4452	CLIP-seq
MIRT2641100	hsa-miR-4713-5p	CLIP-seq
MIRT2641101	hsa-miR-4735-5p	CLIP-seq
MIRT2641102	hsa-miR-4738-3p	CLIP-seq
MIRT2641103	hsa-miR-4789-5p	CLIP-seq
MIRT2641104	hsa-miR-532-3p	CLIP-seq
MIRT2641105	hsa-miR-544	CLIP-seq
MIRT2641106	hsa-miR-590-3p	CLIP-seq
MIRT2641096	hsa-miR-1304	CLIP-seq
MIRT2641097	hsa-miR-150	CLIP-seq
MIRT2641098	hsa-miR-1827	CLIP-seq
MIRT2641099	hsa-miR-4452	CLIP-seq
MIRT2641100	hsa-miR-4713-5p	CLIP-seq
MIRT2641102	hsa-miR-4738-3p	CLIP-seq
MIRT2641104	hsa-miR-532-3p	CLIP-seq
MIRT2641105	hsa-miR-544	CLIP-seq
MIRT2641106	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

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
GO:0016829	Function	Lyase activity	IEA

Other IDs

• MIM: 616146
• HGNC: 20324
• e!Ensembl: 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:

  MSAACWEEPWGLPGGFAKRVLVTGGAGFIASHMIVSLVEDYPNYMIINLDKLDYCASLKN
  LETISNKQNYKFIQGDICDSHFVKLLFETEKIDIVLHFAAQTHVDLSFVRAFEFTYVNVY
  GTHVLVSAAHEARVEKFIYVSTDEVYGGSLDKEFDESSPKQPTNPYASSKAAAECFVQSY
  WEQYKFPVVITRSSNVYGPHQYPEKVIPKFISLLQHNRKCCIHGSGLQTRNFLYATDVVE
  AFLTVLKKGKPGEIYNIGTNFEMSVVQLAKELIQLIKETNSESEMENWVDYVNDRPTNDM
  RYPMKSEKIHGLGWRPKVPWKEGIKKTIEWYRENFHNWKNVEKALEPFPV

• Sequence length: 350

Pathways

KEGG:

Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of nucleotide sugars

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Catel-Manzke syndrome	Likely pathogenic; Pathogenic	rs1888779255, rs140430952, rs544436734, rs724160004, rs727502808, rs724160005, rs1889172738, rs775273838	RCV002810053 RCV000149817 RCV000149818 RCV000149819 RCV000149820 RCV000149822 RCV002510448 RCV002790047
TGDS-related disorder	Likely pathogenic; Pathogenic	rs140430952	RCV003415988

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Clear cell carcinoma of kidney	Likely benign	rs144478268	RCV005903124