TGDS (TDP-glucose 4,6-dehydratase)

Gene

• Entrez ID: 23483
• Gene name: TDP-glucose 4,6-dehydratase
• Gene symbol: TGDS
• Synonyms: 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:0005515	Function	Protein binding	IPI	32814053
GO:0008460	Function	DTDP-glucose 4,6-dehydratase activity	IBA	21873635
GO:0009225	Process	Nucleotide-sugar metabolic process	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
Disease name	Disease term	dbSNP ID	References
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Catel manzke syndrome	Catel Manzke syndrome, Catel-Manzke syndrome	rs140430952, rs544436734, rs724160004, rs727502808, rs724160005	25480037
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Dextrocardia	Dextrocardia	rs1555672928
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	25480037, 14564220, 18501694, 24326962, 28422407, 26366375, 21834032
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease name	Disease term	dbSNP ID	References
Aortic coarctation	Aortic coarctation
Camptodactyly of fingers	Clinodactyly of the 5th finger
Congenital camptodactyly	Congenital Camptodactyly
Congenital clubfoot	Congenital clubfoot
Congenital exomphalos	Congenital exomphalos
Congenital pectus carinatum	Congenital pectus carinatum
Congenital pectus excavatum	Congenital pectus excavatum
Dwarfism	Dwarfism
Glossoptosis	Glossoptosis
High palate	Byzanthine arch palate
Cystic hygroma	Lymphangioma, Cystic
Micrognathism	Micrognathism
Otitis media	Chronic otitis media	rs601338, rs1047781, rs1800028
Overriding aorta	Overriding aorta