Aliases for TKTL2 Gene

Aliases for TKTL2 Gene

  • Transketolase Like 2 2 3 5
  • Transketolase-Like Protein 2 3 4
  • EC 2.2.1.1 4 51
  • Testis Tissue Sperm-Binding Protein Li 39a 3
  • Similar To Transketolase 2
  • DKFZP434L1717 2
  • FLJ32975 2
  • TKTL2 5

External Ids for TKTL2 Gene

Previous GeneCards Identifiers for TKTL2 Gene

  • GC00U921650
  • GC04M164750
  • GC04M164611
  • GC04M164392
  • GC04M160146

Summaries for TKTL2 Gene

GeneCards Summary for TKTL2 Gene

TKTL2 (Transketolase Like 2) is a Protein Coding gene. Diseases associated with TKTL2 include Uremic Neuropathy and Wernicke-Korsakoff Syndrome. Among its related pathways are Metabolism and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor and transketolase activity. An important paralog of this gene is TKTL1.

UniProtKB/Swiss-Prot Summary for TKTL2 Gene

  • Plays an essential role in total transketolase activity and cell proliferation in cancer cells; after transfection with anti-TKTL1 siRNA, total transketolase activity dramatically decreases and proliferation was significantly inhibited in cancer cells. Plays a pivotal role in carcinogenesis.

Gene Wiki entry for TKTL2 Gene

Additional gene information for TKTL2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TKTL2 Gene

Genomics for TKTL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TKTL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J163550 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 10.6 -76.7 -76678 0.2 CTCF REST RAD21 TRIM22 GTF2F1 YY1 TOE1 CBX3 USF2 RUNX3 TMA16 TKTL2 ENSG00000273449 LOC107986325 ANP32C MARCHF1
GH04J163544 Enhancer 0.8 ENCODE dbSUPER 10.6 -71.2 -71189 1.4 CTCF ZNF143 REST RAD21 TRIM22 NRF1 RUNX3 FOXK2 ZNF444 SMC3 MARCHF1 TMA16 TKTL2 ENSG00000273449 LOC107986325 ANP32C
GH04J163549 Promoter 0.8 CraniofacialAtlas 10.6 -76.3 -76295 0.4 CTCF TRIM22 RAD21 CBX3 YY1 NBN RB1 SIN3A TBL1XR1 STAT5A MARCHF1 TMA16 TKTL2 ENSG00000273449 LOC107986325 ANP32C
GH04J163448 Enhancer 0.6 Ensembl 11.7 +24.9 24854 0.2 CREB1 TARDBP ESRRA JUND GATAD2B MBD2 ESR1 ZNF217 ATF3 FOS piR-57461-175 TKTL2 NPY1R NPY5R piR-31846-020
GH04J163540 Enhancer 0.6 Ensembl ENCODE 10.7 -67.8 -67847 2.8 ZNF10 CEBPB FOS RBM22 JUND MARCHF1 TMA16 TKTL2 ENSG00000273449 LOC107986325 ANP32C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TKTL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TKTL2

Top Transcription factor binding sites by QIAGEN in the TKTL2 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • N-Myc
  • RREB-1
  • S8
  • SRF
  • SRF (504 AA)

Genomic Locations for TKTL2 Gene

Genomic Locations for TKTL2 Gene
chr4:163,471,095-163,473,754
(GRCh38/hg38)
Size:
2,660 bases
Orientation:
Minus strand
chr4:164,392,247-164,395,047
(GRCh37/hg19)
Size:
2,801 bases
Orientation:
Minus strand

Genomic View for TKTL2 Gene

Genes around TKTL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TKTL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TKTL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TKTL2 Gene

Proteins for TKTL2 Gene

  • Protein details for TKTL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0I9-TKTL2_HUMAN
    Recommended name:
    Transketolase-like protein 2
    Protein Accession:
    Q9H0I9
    Secondary Accessions:
    • A4FVB4
    • Q8NCT0
    • Q96M82

    Protein attributes for TKTL2 Gene

    Size:
    626 amino acids
    Molecular mass:
    67877 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Cofactor:
    Name=Co(2+); Xref=ChEBI:CHEBI:48828;
    Cofactor:
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    • Homodimer.

neXtProt entry for TKTL2 Gene

Selected DME Specific Peptides for TKTL2 Gene

Q9H0I9:
  • FAAFFTRAFDQ
  • ACGMAYTGKY
  • GLALAKLG
  • EDAENWHGKP
  • FTIKPLD
  • DVATGSLGQGLG
  • VIGAGVTLHEAL
  • DKASYRV
  • VLFFHTM
  • SEGSVWEA
  • MALEDLAMFR
  • GGIGEAV
  • GHAAPILYA
  • TSCCSAAE
  • ASYRVFCL
  • GSHCGVS

Post-translational modifications for TKTL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TKTL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TKTL2 Gene

Gene Families for TKTL2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for TKTL2 Gene

InterPro:
Blocks:
  • Transketolase, central region
  • Transketolase, C terminal
ProtoNet:

Suggested Antigen Peptide Sequences for TKTL2 Gene

GenScript: Design optimal peptide antigens:
  • Transketolase-like protein 2 (TKTL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H0I9

UniProtKB/Swiss-Prot:

TKTL2_HUMAN :
  • Belongs to the transketolase family.
Family:
  • Belongs to the transketolase family.
genes like me logo Genes that share domains with TKTL2: view

Function for TKTL2 Gene

Molecular function for TKTL2 Gene

UniProtKB/Swiss-Prot Function:
Plays an essential role in total transketolase activity and cell proliferation in cancer cells; after transfection with anti-TKTL1 siRNA, total transketolase activity dramatically decreases and proliferation was significantly inhibited in cancer cells. Plays a pivotal role in carcinogenesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=D-glyceraldehyde 3-phosphate + D-sedoheptulose 7-phosphate = aldehydo-D-ribose 5-phosphate + D-xylulose 5-phosphate; Xref=Rhea:RHEA:10508, ChEBI:CHEBI:57483, ChEBI:CHEBI:57737, ChEBI:CHEBI:58273, ChEBI:CHEBI:59776; EC=2.2.1.1;.

Enzyme Numbers (IUBMB) for TKTL2 Gene

Phenotypes From GWAS Catalog for TKTL2 Gene

Gene Ontology (GO) - Molecular Function for TKTL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004802 transketolase activity IEA,IBA 21873635
GO:0016740 transferase activity IEA --
GO:0030976 thiamine pyrophosphate binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TKTL2: view
genes like me logo Genes that share phenotypes with TKTL2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TKTL2

CRISPR Products

miRNA for TKTL2 Gene

miRTarBase miRNAs that target TKTL2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TKTL2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TKTL2 Gene

Localization for TKTL2 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 TKTL2 gene
Compartment Confidence
plasma membrane 2
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for TKTL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with TKTL2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for TKTL2 Gene

Pathways & Interactions for TKTL2 Gene

genes like me logo Genes that share pathways with TKTL2: view

Pathways by source for TKTL2 Gene

Gene Ontology (GO) - Biological Process for TKTL2 Gene

None

No data available for SIGNOR curated interactions for TKTL2 Gene

Drugs & Compounds for TKTL2 Gene

(5) Drugs for TKTL2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
D-erythrose 4-phosphate Experimental Pharma 0
Glyceraldehyde-3-Phosphate Experimental Pharma 0
Thiamine Pyrophosphate Pharma 3
Calcium Nutra 6556

(8) Additional Compounds for TKTL2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Aminofructose 6-phosphate
  • amino-D-Fructose 6-phosphate
  • amino-D-Fructose 6-phosphoric acid
  • Aminofructose 6-phosphoric acid
Beta-D-Fructose 6-phosphate
  • 6-O-phosphono-beta-D-Fructofuranose
  • FRUCTOSE-6-phosphATE
  • 6-O-phosphono-b-D-Fructofuranose
  • 6-O-phosphono-β-D-fructofuranose
  • b-D-Fructose 6-phosphate
D-Ribose 5-phosphate
  • D-Ribose 5'-phosphate
  • D-Ribose-5-P
  • Ribose 5-phosphate
  • D-Ribose 5'-phosphoric acid
  • D-Ribose 5-phosphoric acid
3615-55-2
D-Ribulose 5-phosphate
  • D-erythro-Pent-2-ulose 5-(dihydrogen phosphate)
  • D-erythro-Pent-2-ulose 5-(dihydrogen phosphoric acid)
  • D-Ribulose 5-phosphoric acid
4151-19-3
D-Sedoheptulose 7-phosphate
  • 7-(Dihydrogen phosphate) sedoheptulose
  • D-Sedoheptulose-7-P
  • D-Sedoheptulose-7-phosphate
  • Heptulose-7-phosphate
  • Sedoheptulose 7-phosphate
2646-35-7
genes like me logo Genes that share compounds with TKTL2: view

Transcripts for TKTL2 Gene

mRNA/cDNA for TKTL2 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TKTL2

Alternative Splicing Database (ASD) splice patterns (SP) for TKTL2 Gene

No ASD Table

Relevant External Links for TKTL2 Gene

GeneLoc Exon Structure for
TKTL2

Expression for TKTL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TKTL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for TKTL2 Gene

This gene is overexpressed in Testis (x49.8).

Protein differential expression in normal tissues from HIPED for TKTL2 Gene

This gene is overexpressed in Testis (45.6) and Ovary (23.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TKTL2 Gene



Protein tissue co-expression partners for TKTL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TKTL2

SOURCE GeneReport for Unigene cluster for TKTL2 Gene:

Hs.303923

mRNA Expression by UniProt/SwissProt for TKTL2 Gene:

Q9H0I9-TKTL2_HUMAN
Tissue specificity: Overexpressed in hepatoma cancer cells.
genes like me logo Genes that share expression patterns with TKTL2: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TKTL2 Gene

Orthologs for TKTL2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TKTL2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TKTL2 30 31
  • 99.63 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TKTL2 30 31
  • 83.52 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tktl2 30 17 31
  • 80.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tktl2 30
  • 80.59 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 75 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 71 (a)
ManyToMany
-- 31
  • 57 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 68 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tktl2 30
  • 71.09 (n)
MGC76292 30
African clawed frog
(Xenopus laevis)
Amphibia MGC69114 30
Zebrafish
(Danio rerio)
Actinopterygii tktb 30 31
  • 68.61 (n)
OneToMany
tkt 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10494 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG8036 30 31
  • 59.79 (n)
ManyToMany
CG5103 31
  • 51 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011161 30
  • 58.13 (n)
Worm
(Caenorhabditis elegans)
Secernentea tkt-1 30 31
  • 60.07 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TKL1 31
  • 23 (a)
ManyToMany
TKL2 31
  • 21 (a)
ManyToMany
Species where no ortholog for TKTL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TKTL2 Gene

ENSEMBL:
Gene Tree for TKTL2 (if available)
TreeFam:
Gene Tree for TKTL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TKTL2: view image

Paralogs for TKTL2 Gene

Paralogs for TKTL2 Gene

(3) SIMAP similar genes for TKTL2 Gene using alignment to 1 proteins:

  • TKTL2_HUMAN
genes like me logo Genes that share paralogs with TKTL2: view

Variants for TKTL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TKTL2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs11735477 - p.Gln590His
rs3811750 - p.Arg442Gln

Additional dbSNP identifiers (rs#s) for TKTL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TKTL2 Gene

Variant ID Type Subtype PubMed ID
nsv1015505 CNV gain 25217958
nsv1028437 CNV gain 25217958
nsv1030184 CNV loss 25217958

Variation tolerance for TKTL2 Gene

Residual Variation Intolerance Score: 78.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.39; 63.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TKTL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TKTL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TKTL2 Gene

Disorders for TKTL2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TKTL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
uremic neuropathy
wernicke-korsakoff syndrome
  • transketolase defect
thiamine deficiency disease
- elite association - COSMIC cancer census association via MalaCards
Search TKTL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TKTL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TKTL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TKTL2 Gene

Publications for TKTL2 Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
  3. Gene silencing of TKTL1 by RNAi inhibits cell proliferation in human hepatoma cells. (PMID: 17321041) Zhang S … Cai PC (Cancer letters 2007) 4 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The human transketolase-like proteins TKTL1 and TKTL2 are bona fide transketolases. (PMID: 30646877) Deshpande GP … Faadiel Essop M (BMC structural biology 2019) 3

Products for TKTL2 Gene

Sources for TKTL2 Gene