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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 3
  • Short Chain Dehydrogenase/Reductase Family 2E 2
  • Growth-Inhibiting Protein 21 3
  • EC 4.2.1.46 4
  • Member 1 2
  • CATMANS 3
  • 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. Among its related pathways are Metabolism. 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 UXS1.

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

Genomics for TGDS Gene

Regulatory Elements for TGDS Gene

Promoters for TGDS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TGDS on UCSC Golden Path with GeneCards custom track

Genomic Location for TGDS Gene

Chromosome:
13
Start:
94,574,051 bp from pter
End:
94,596,275 bp from pter
Size:
22,225 bases
Orientation:
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:
    O95455-TGDS_HUMAN
    Recommended name:
    dTDP-D-glucose 4,6-dehydratase
    Protein Accession:
    O95455
    Secondary Accessions:
    • Q05DQ3
    • Q2TU31
    • Q5T3Z2
    • Q9H1T9

    Protein attributes for TGDS Gene

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

neXtProt entry for TGDS Gene

Proteomics data for TGDS Gene at MOPED

Post-translational modifications for TGDS Gene

  • Ubiquitination at Lys 185
  • Modification sites at PhosphoSitePlus

Other Protein References for TGDS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TGDS Gene

Domains & Families for TGDS Gene

Gene Families for TGDS Gene

Protein Domains for TGDS Gene

Graphical View of Domain Structure for InterPro Entry

O95455

UniProtKB/Swiss-Prot:

TGDS_HUMAN :
  • Belongs to the NAD(P)-dependent epimerase/dehydratase family. dTDP-glucose dehydratase subfamily.
Family:
  • 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 --
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

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TGDS Gene

Localization for TGDS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TGDS Gene COMPARTMENTS Subcellular localization image for TGDS gene
Compartment Confidence
cytoskeleton 2
cytosol 2
mitochondrion 2
nucleus 2
extracellular 1
peroxisome 1

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

Pathways & Interactions for TGDS Gene

SuperPathways for TGDS Gene

Superpath Contained pathways
1 Metabolism
genes like me logo Genes that share pathways with TGDS: view

Pathways by source for TGDS Gene

1 KEGG pathway for TGDS Gene

Interacting Proteins for TGDS Gene

Gene Ontology (GO) - Biological Process for TGDS Gene

None

No data available for SIGNOR curated interactions for TGDS Gene

Drugs & Compounds for TGDS Gene

(2) Drugs for TGDS Gene - From: HMDB

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4,6-Dideoxy-4-oxo-dTDP-D-glucose
  • 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
dTDP
  • Deoxy-TDP
  • Deoxythymidine 5'-diphosphate
  • dTDP
  • TDP
  • Thymidine 5'-diphosphate
491-97-4
dTDP-D-glucose
  • dTDP-D-Glucose
  • dTDP-delta-Glucose
  • dTDP-Glucose
  • DTDPglucose
  • Mono-a-D-glucopyranosyl ester
2196-62-5
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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: -
SP2:
SP3: -

Relevant External Links for TGDS Gene

GeneLoc Exon Structure for
TGDS
ECgene alternative splicing isoforms for
TGDS

Expression for TGDS Gene

mRNA expression in normal human tissues for TGDS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for TGDS Gene Hs.12393

genes like me logo Genes that share expression patterns with TGDS: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
chimpanzee
(Pan troglodytes)
Mammalia TGDS 36
  • 99 (a)
OneToOne
TGDS 35
  • 99.43 (n)
  • 99.14 (a)
cow
(Bos Taurus)
Mammalia TGDS 35
  • 93.43 (n)
  • 96.29 (a)
TGDS 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TGDS 36
  • 93 (a)
OneToOne
TGDS 35
  • 94.1 (n)
  • 94.57 (a)
mouse
(Mus musculus)
Mammalia Tgds 16
Tgds 36
  • 90 (a)
OneToOne
Tgds 35
  • 86.57 (n)
  • 91.14 (a)
oppossum
(Monodelphis domestica)
Mammalia TGDS 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGDS 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGDS 35
  • 80.9 (n)
  • 87.16 (a)
TGDS 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGDS 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgds 35
  • 74.09 (n)
  • 76.33 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6468 35
zebrafish
(Danio rerio)
Actinopterygii tgds 36
  • 49 (a)
OneToOne
tgds 35
  • 61.01 (n)
  • 60.75 (a)
wufi14g09 35
worm
(Caenorhabditis elegans)
Secernentea C01F1.3 36
  • 17 (a)
OneToMany
F53B1.4 36
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL10 36
  • 12 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons RHM3 35
  • 54.29 (n)
  • 49.08 (a)
rice
(Oryza sativa)
Liliopsida Os03g0278200 35
  • 55.96 (n)
  • 49.54 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00403 35
  • 50.78 (n)
  • 51.16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8968 36
  • 23 (a)
ManyToMany
Species with no ortholog for TGDS:
  • 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

ENSEMBL:
Gene Tree for TGDS (if available)
TreeFam:
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 Sequence Context AA Info Type
rs34991132 - 94,596,094(+) AAAGC(C/T)GCCGG intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
VAR_072682 Catel-Manzke syndrome (CATMANS)
VAR_072683 Catel-Manzke syndrome (CATMANS)
VAR_072684 Catel-Manzke syndrome (CATMANS)
rs544436734 Catel-Manzke syndrome (CATMANS) 94,578,130(+) AGCAT(A/G)AAGGA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv34004 CNV Loss 18971310
nsv832685 CNV Gain 17160897
nsv832686 CNV Gain 17160897
nsv819312 CNV Loss 19587683

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)

Relevant External Links for TGDS Gene

HapMap Linkage Disequilibrium report
TGDS
Human Gene Mutation Database (HGMD)
TGDS

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

Disorders for TGDS Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

TGDS_HUMAN
  • 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.

Relevant External Links for TGDS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Am. J. Hum. Genet. 2014) 3 4 67
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  3. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PMID: 23503679) Zhu J. … Elledge S.J. (Nat. Biotechnol. 2013) 3
  4. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3
  5. Genome-scale RNAi screen for host factors required for HIV replication. (PMID: 18976975) Zhou H. … Espeseth A.S. (Cell Host Microbe 2008) 3

Products for TGDS Gene

Sources for TGDS Gene

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