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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 4.2.1.46 4
  • 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. 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

Regulatory Elements for TGDS Gene

Enhancers for TGDS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13H095534 1 ENCODE 23.5 -938.7 -938743 1 PKNOX1 FOXA2 ARID4B GLI4 ZNF2 GLIS2 FOS ZNF202 YY2 REST TGDS RPL21P112 ABCC4 CLDN10 CLDN10-AS1 GC13P095540
GH13H095253 1 ENCODE dbSUPER 12.8 -659.4 -659358 3 TBP JUN ZNF140 SIN3A FOSL1 ZNF366 POLR2A SCRT2 RCOR1 ZNF600 ABCC4 TGDS LOC102724149 GC13M095121
GH13H094600 1 ENCODE 10.3 -5.8 -5821 2 HDGF PKNOX1 ATF1 ZNF493 SIN3A ZNF2 ZBTB7B YY1 ZNF121 GLIS2 GPR180 TGDS GC13P094634
GH13H094710 1 ENCODE dbSUPER 10 -114.8 -114841 2 ZSCAN5A CTCF MXI1 ARNT SUZ12 ZNF792 GLI4 ZNF2 ZFHX2 GLIS2 TGDS LOC101927248 GC13M094711
GH13H094482 0.6 ENCODE 13.7 +114.1 114114 0 FOSL1 TFE3 BHLHE40 USF2 ZNF354B MGA TGDS TRF-GAA1-5 GC13M094348
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TGDS on UCSC Golden Path with GeneCards custom track

Promoters for TGDS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000064599 275 1600 HDGF ATF1 ARID4B SIN3A FEZF1 DMAP1 BRCA1 YY1 ETS1 ZNF121

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

Post-translational modifications for TGDS Gene

  • Ubiquitination at Lys185
  • 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

HGNC:
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

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 --
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

CRISPR Products

miRNA for TGDS Gene

miRTarBase miRNAs that target TGDS

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TGDS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
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)
  • 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

None

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
NAD Pharma Full agonist, Agonist 0
NADH Nutra 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
  • 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
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TGDS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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:

TGDS

SOURCE GeneReport for Unigene cluster for TGDS Gene:

Hs.12393

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • skull
  • tongue
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
  • testicle
Limb:
  • 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
General:
  • blood
  • blood vessel
  • hair
  • lymph vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TGDS: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia TGDS 34 33
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TGDS 33 34
  • 94.1 (n)
cow
(Bos Taurus)
Mammalia TGDS 33 34
  • 93.43 (n)
oppossum
(Monodelphis domestica)
Mammalia TGDS 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGDS 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tgds 33 16 34
  • 86.57 (n)
chicken
(Gallus gallus)
Aves TGDS 33 34
  • 80.9 (n)
lizard
(Anolis carolinensis)
Reptilia TGDS 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgds 33
  • 74.09 (n)
zebrafish
(Danio rerio)
Actinopterygii tgds 33 34
  • 61.01 (n)
wufi14g09 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6468 33
worm
(Caenorhabditis elegans)
Secernentea F53B1.4 34
  • 35 (a)
OneToMany
C01F1.3 34
  • 17 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL10 34
  • 12 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons RHM3 33
  • 54.29 (n)
rice
(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)
ManyToMany
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

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
rs140430952 Pathogenic, Catel-Manzke syndrome (CATMANS) [MIM:616145] 94,590,868(+) TTGTG(A/C/T)GGCAA intron-variant, nc-transcript-variant, reference, missense
rs544436734 Pathogenic, Catel-Manzke syndrome (CATMANS) [MIM:616145] 94,578,130(+) AGCAT(A/G)AAGGA nc-transcript-variant, reference, missense
rs724160004 Pathogenic, Catel-Manzke syndrome (CATMANS) [MIM:616145] 94,590,897(-) AACAG(A/G)GAAAA intron-variant, nc-transcript-variant, reference, missense
rs724160005 Pathogenic, Catel-Manzke syndrome (CATMANS) [MIM:616145] 94,576,404(-) CCACC(A/G)ATGAC nc-transcript-variant, reference, missense
rs727502808 Pathogenic, Catel-Manzke syndrome (CATMANS) [MIM:616145] 94,590,872(-) CATTT(C/G/T)GCCGC intron-variant, nc-transcript-variant, reference, synonymous-codon, missense

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)

Relevant External Links for TGDS Gene

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

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, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
catel-manzke syndrome
  • catel manzke syndrome
hyperphalangy
  • supernumerary phalanges
temtamy preaxial brachydactyly syndrome
  • preaxial brachydactyly syndrome, temtamy type
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 (American journal of human genetics 2014) 3 4 60
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 60
  3. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 60
  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 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for TGDS Gene

Sources for TGDS Gene

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