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Aliases for TGDS Gene

Aliases for TGDS Gene

  • TDP-Glucose 4,6-Dehydratase 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 2E, Member 1 2 3
  • DTDP-D-Glucose 4,6-Dehydratase 3
  • Growth-Inhibiting Protein 21 3
  • EC 4
  • SDR2E1 3
  • TDPGD 3

External Ids for TGDS Gene

Previous GeneCards Identifiers for TGDS Gene

  • GC13M094062
  • GC13M092924
  • GC13M094024
  • GC13M095226
  • GC13M075823

Summaries for TGDS Gene

Entrez Gene Summary for TGDS 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 of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

GeneCards Summary for TGDS Gene

TGDS (TDP-Glucose 4,6-Dehydratase) is a Protein Coding gene. Diseases associated with TGDS include Catel-Manzke Syndrome and Hyperphalangy. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and 3-beta-hydroxy-delta5-steroid dehydrogenase activity. An important paralog of this gene is GALE.

Additional gene information for TGDS Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGDS Gene

Genomics for TGDS Gene

GeneHancer (GH) Regulatory Elements for TGDS Gene

Promoters and enhancers for TGDS Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I094594 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.6 641 2.5 HDGF ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 POLR2B E2F8 ZNF207 TGDS GPR180 DCT
GH13I095534 Enhancer 1 ENCODE 23.5 -938.7 -938742 2 PKNOX1 FOXA2 ARID4B GLI4 ZNF2 GLIS2 FOS KLF13 ZNF202 YY2 CLDN10-AS1 TGDS ABCC4 CLDN10 GC13P095540
GH13I094600 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.3 -5.8 -5821 2.6 HDGF PKNOX1 SIN3A ZNF2 ZBTB7B YY1 POLR2B ZNF213 E2F8 ZNF207 GPR180 TGDS GC13P094634
GH13I095551 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 9.9 -956.6 -956635 1.8 SP1 CTCF ZNF202 RNF2 POLR2A ZFP36 REST EZH2 CLDN10 TGDS DNAJC3 DNAJC3-AS1 GC13P095540 GC13M095580
GH13I095253 Enhancer 0.9 ENCODE dbSUPER 12.8 -659.4 -659357 3.5 JUN ZNF140 SIN3A FOSL1 ZNF366 POLR2A SCRT2 RCOR1 PRDM10 FOSL2 ABCC4 TGDS LOC102724149 GC13M095121
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TGDS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TGDS gene promoter:

Genomic Locations for TGDS Gene

Genomic Locations for TGDS Gene
22,225 bases
Minus strand

Genomic View for TGDS Gene

Genes around TGDS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGDS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGDS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGDS Gene

Proteins for TGDS Gene

  • Protein details for TGDS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    dTDP-D-glucose 4,6-dehydratase
    Protein Accession:
    Secondary Accessions:
    • Q05DQ3
    • Q2TU31
    • Q5T3Z2
    • Q9H1T9

    Protein attributes for TGDS Gene

    350 amino acids
    Molecular mass:
    40214 Da
    Name=NAD(+); Xref=ChEBI:CHEBI:57540;
    Quaternary structure:
    No Data Available
    • Sequence=AAH05284.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for TGDS Gene

Post-translational modifications for TGDS Gene

  • Ubiquitination at isoforms=185
  • Modification sites at PhosphoSitePlus

Other Protein References for TGDS Gene

No data available for DME Specific Peptides for TGDS Gene

Domains & Families for TGDS Gene

Gene Families for TGDS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for TGDS Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the NAD(P)-dependent epimerase/dehydratase family. dTDP-glucose dehydratase subfamily.
  • Belongs to the NAD(P)-dependent epimerase/dehydratase family. dTDP-glucose dehydratase subfamily.
genes like me logo Genes that share domains with TGDS: view

Function for TGDS Gene

Molecular function for TGDS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
dTDP-alpha-D-glucose = dTDP-4-dehydro-6-deoxy-alpha-D-glucose + H(2)O.

Enzyme Numbers (IUBMB) for TGDS Gene

Gene Ontology (GO) - Molecular Function for TGDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008460 dTDP-glucose 4,6-dehydratase activity IEA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with TGDS: view
genes like me logo Genes that share phenotypes with TGDS: view

Human Phenotype Ontology for TGDS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TGDS

miRNA for TGDS Gene

miRTarBase miRNAs that target TGDS

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for TGDS Gene

Localization for TGDS Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGDS gene
Compartment Confidence
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cleavage furrow (2)
  • Intermediate filaments (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TGDS Gene

Pathways & Interactions for TGDS Gene

No Data Available

Gene Ontology (GO) - Biological Process for TGDS Gene


No data available for Pathways by source and SIGNOR curated interactions for TGDS Gene

Drugs & Compounds for TGDS Gene

(3) Drugs for TGDS Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
NADH Approved Nutra 0
NAD Pharma Full agonist, Agonist 0

(3) Additional Compounds for TGDS Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 4,6-Dideoxy-4-oxo-dTDP-D-glucose
  • dTDP-4-Dehydro-6-deoxy-D-glucose
  • dTDP-4-Dehydro-6-deoxy-L-mannose
  • dTDP-4-Dehydro-L-rhamnose
  • dTDP-4-Oxo-6-deoxy-D-glucose
  • Deoxy-TDP
  • Deoxythymidine 5'-diphosphate
  • dTDP
  • TDP
  • Thymidine 5'-diphosphate
  • dTDP-D-Glucose
  • dTDP-delta-Glucose
  • dTDP-Glucose
  • DTDPglucose
  • Mono-a-D-glucopyranosyl ester
genes like me logo Genes that share compounds with TGDS: view

Transcripts for TGDS Gene

Unigene Clusters for TGDS Gene

TDP-glucose 4,6-dehydratase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TGDS Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: -
SP3: -

Relevant External Links for TGDS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TGDS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TGDS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of TGDS Gene:


SOURCE GeneReport for Unigene cluster for TGDS Gene:


Phenotype-based relationships between genes and organs from Gene ORGANizer for TGDS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • skull
  • tongue
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
  • abdominal wall
  • intestine
  • pelvis
  • testicle
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • hair
  • lymph vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TGDS: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for TGDS Gene

Orthologs for TGDS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TGDS Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TGDS 34 33
  • 99.43 (n)
(Canis familiaris)
Mammalia TGDS 33 34
  • 94.1 (n)
(Bos Taurus)
Mammalia TGDS 34 33
  • 93.43 (n)
(Monodelphis domestica)
Mammalia TGDS 34
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia TGDS 34
  • 88 (a)
(Mus musculus)
Mammalia Tgds 16 34 33
  • 86.57 (n)
(Gallus gallus)
Aves TGDS 34 33
  • 80.9 (n)
(Anolis carolinensis)
Reptilia TGDS 34
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tgds 33
  • 74.09 (n)
(Danio rerio)
Actinopterygii tgds 34 33
  • 61.01 (n)
wufi14g09 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6468 33
(Caenorhabditis elegans)
Secernentea F53B1.4 34
  • 35 (a)
C01F1.3 34
  • 17 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL10 34
  • 12 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons RHM3 33
  • 54.29 (n)
(Oryza sativa)
Liliopsida Os03g0278200 33
  • 55.96 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00403 33
  • 50.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8968 34
  • 23 (a)
Species where no ortholog for TGDS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TGDS Gene

Gene Tree for TGDS (if available)
Gene Tree for TGDS (if available)

Paralogs for TGDS Gene

Paralogs for TGDS Gene

genes like me logo Genes that share paralogs with TGDS: view

Variants for TGDS Gene

Sequence variations from dbSNP and Humsavar for TGDS Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs140430952 pathogenic, Catel Manzke syndrome, Catel-Manzke syndrome (CATMANS) [MIM:616145] 94,590,868(-) C/A/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs544436734 pathogenic, Catel Manzke syndrome, Catel-Manzke syndrome (CATMANS) [MIM:616145] 94,578,130(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs724160004 pathogenic, Catel Manzke syndrome, Catel-Manzke syndrome (CATMANS) [MIM:616145] 94,590,897(-) T/C coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs724160005 pathogenic, Catel Manzke syndrome, Catel-Manzke syndrome (CATMANS) [MIM:616145] 94,576,404(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs727502808 pathogenic, Catel Manzke syndrome, Catel-Manzke syndrome (CATMANS) [MIM:616145] 94,590,872(-) A/C/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for TGDS Gene

Variant ID Type Subtype PubMed ID
esv34004 CNV loss 18971310
nsv562756 CNV gain 21841781
nsv819312 CNV loss 19587683
nsv832685 CNV gain 17160897
nsv832686 CNV gain 17160897

Variation tolerance for TGDS Gene

Residual Variation Intolerance Score: 40.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.09; 22.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TGDS Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGDS Gene

Disorders for TGDS Gene

MalaCards: The human disease database

(5) MalaCards diseases for TGDS Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
catel-manzke syndrome
  • catmans
  • supernumerary phalanges
temtamy preaxial brachydactyly syndrome
  • tpbs
  • congenital macroglossia
corneal dystrophy, fleck
  • cfd
- elite association - COSMIC cancer census association via MalaCards
Search TGDS in MalaCards View complete list of genes associated with diseases


  • Catel-Manzke syndrome (CATMANS) [MIM:616145]: A syndrome characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). {ECO:0000269 PubMed:25480037}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TGDS

genes like me logo Genes that share disorders with TGDS: view

No data available for Genatlas for TGDS Gene

Publications for TGDS Gene

  1. Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. (PMID: 25480037) Ehmke N … Mundlos S (American journal of human genetics 2014) 3 4 58
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 58
  3. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TGDS Gene

Sources for TGDS Gene

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