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Aliases for TBX18 Gene

Aliases for TBX18 Gene

  • T-Box 18 2 3
  • T-Box Protein 18 4

External Ids for TBX18 Gene

Previous GeneCards Identifiers for TBX18 Gene

  • GC06U990171
  • GC06M085413
  • GC06M085393
  • GC06M085453
  • GC06M085500
  • GC06M082667
  • GC06M085398
  • GC06M085444
  • GC06M085400

Summaries for TBX18 Gene

Entrez Gene Summary for TBX18 Gene

  • This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]

GeneCards Summary for TBX18 Gene

TBX18 (T-Box 18) is a Protein Coding gene. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is TBX20.

UniProtKB/Swiss-Prot for TBX18 Gene

  • Acts as transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node (SAN) head area.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBX18 Gene

Genomics for TBX18 Gene

Regulatory Elements for TBX18 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TBX18 Gene

Start:
84,687,351 bp from pter
End:
84,764,624 bp from pter
Size:
77,274 bases
Orientation:
Minus strand

Genomic View for TBX18 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBX18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBX18 Gene

Proteins for TBX18 Gene

  • Protein details for TBX18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95935-TBX18_HUMAN
    Recommended name:
    T-box transcription factor TBX18
    Protein Accession:
    O95935
    Secondary Accessions:
    • A2RU13
    • Q7Z6U4
    • Q9UJI6

    Protein attributes for TBX18 Gene

    Size:
    607 amino acids
    Molecular mass:
    64753 Da
    Quaternary structure:
    • Homodimer. Can form a heterodimer with TBX15. Interacts with GATA4 AND NKX2-5. Interacts (via engrailed homology 1 repressor motif) with TLE3; this interaction represses TBX18 transcriptional activity. Interacts with PAX3.

neXtProt entry for TBX18 Gene

Proteomics data for TBX18 Gene at MOPED

Post-translational modifications for TBX18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX18 Gene

Antibody Products

No data available for DME Specific Peptides for TBX18 Gene

Domains for TBX18 Gene

Gene Families for TBX18 Gene

HGNC:

Protein Domains for TBX18 Gene

Suggested Antigen Peptide Sequences for TBX18 Gene

Graphical View of Domain Structure for InterPro Entry

O95935

UniProtKB/Swiss-Prot:

TBX18_HUMAN :
  • O95935
Domain:
  • Contains 1 T-box DNA-binding domain.
genes like me logo Genes that share domains with TBX18: view

Function for TBX18 Gene

Molecular function for TBX18 Gene

GENATLAS Biochemistry:
murine T-box gene Tbx18 (T,brachyury) homolog
UniProtKB/Swiss-Prot Function:
Acts as transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node (SAN) head area.

Gene Ontology (GO) - Molecular Function for TBX18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding ISS --
GO:0001106 RNA polymerase II transcription corepressor activity ISS --
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with TBX18: view
genes like me logo Genes that share phenotypes with TBX18: view

Animal Model Products

miRNA for TBX18 Gene

miRTarBase miRNAs that target TBX18

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TBX18 Gene

Localization for TBX18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX18 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBX18 Gene COMPARTMENTS Subcellular localization image for TBX18 gene
Compartment Confidence
nucleus 3
cytosol 2
cytoskeleton 1
extracellular 1
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TBX18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
genes like me logo Genes that share ontologies with TBX18: view

Pathways for TBX18 Gene

SuperPathways for TBX18 Gene

No Data Available

Interacting Proteins for TBX18 Gene

Gene Ontology (GO) - Biological Process for TBX18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001756 somitogenesis IEA --
GO:0002053 positive regulation of mesenchymal cell proliferation --
GO:0003163 sinoatrial node development IEA --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with TBX18: view

No data available for Pathways by source for TBX18 Gene

Transcripts for TBX18 Gene

mRNA/cDNA for TBX18 Gene

Unigene Clusters for TBX18 Gene

T-box 18:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBX18

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBX18 Gene

No ASD Table

Relevant External Links for TBX18 Gene

GeneLoc Exon Structure for
TBX18
ECgene alternative splicing isoforms for
TBX18

Expression for TBX18 Gene

mRNA expression in normal human tissues for TBX18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBX18 Gene

This gene is overexpressed in Artery - Tibial (10.7), Artery - Coronary (7.2), and Artery - Aorta (4.8).

Protein differential expression in normal tissues for TBX18 Gene

This gene is overexpressed in Heart (53.0) and Lung (16.0).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for TBX18 Gene

SOURCE GeneReport for Unigene cluster for TBX18 Gene Hs.251830

genes like me logo Genes that share expressions with TBX18: view

Expression partners for TBX18 Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for TBX18 Gene

Orthologs for TBX18 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX18 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TBX18 35
  • 91.49 (n)
  • 96.54 (a)
TBX18 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBX18 35
  • 92.09 (n)
  • 97.69 (a)
TBX18 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbx18 35
  • 88.36 (n)
  • 94.56 (a)
Tbx18 16
Tbx18 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TBX18 35
  • 99.73 (n)
  • 99.84 (a)
TBX18 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbx18 35
  • 88.39 (n)
  • 93.56 (a)
oppossum
(Monodelphis domestica)
Mammalia TBX18 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBX18 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBX18 35
  • 80.63 (n)
  • 88.79 (a)
TBX18 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBX18 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx18 35
  • 74.38 (n)
  • 83.04 (a)
zebrafish
(Danio rerio)
Actinopterygii tbx18 35
tbx18 35
  • 66.91 (n)
  • 71.45 (a)
tbx18 36
  • 67 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mls-1 36
  • 46 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToMany
Species with no ortholog for TBX18:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBX18 Gene

ENSEMBL:
Gene Tree for TBX18 (if available)
TreeFam:
Gene Tree for TBX18 (if available)

Paralogs for TBX18 Gene

Paralogs for TBX18 Gene

Selected SIMAP similar genes for TBX18 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TBX18: view

Variants for TBX18 Gene

Sequence variations from dbSNP and Humsavar for TBX18 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs172562 - 84,764,040(+) ggccc(C/T)cgccg missense, reference
rs215923 -- 84,746,214(+) ACAGT(C/T)AATTT intron-variant
rs215931 -- 84,766,582(+) ACGCC(A/G)GAAGA upstream-variant-2KB
rs215938 -- 84,756,262(-) GTTCC(A/G)TCTGC intron-variant
rs215939 -- 84,756,568(-) TGTCT(G/T)TGCAG intron-variant

Relevant External Links for TBX18 Gene

HapMap Linkage Disequilibrium report
TBX18
Human Gene Mutation Database (HGMD)
TBX18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TBX18 Gene

Disorders for TBX18 Gene

(1) University of Copenhagen DISEASES for TBX18 Gene

Relevant External Links for TBX18

Genetic Association Database (GAD)
TBX18
genes like me logo Genes that share disorders with TBX18: view

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for TBX18 Gene

Publications for TBX18 Gene

  1. Identification, mapping and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19. (PMID: 9888994) Yi C.-H. … Brook J.D. (Genomics 1999) 2 3 4
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  3. T-genes and limb bud development. (PMID: 16688725) King M. … Morrow B.E. (Am. J. Med. Genet. A 2006) 2 3
  4. Direct conversion of quiescent cardiomyocytes to pacemaker cells by expression of Tbx18. (PMID: 23242162) Kapoor N. … Cho H.C. (Nat. Biotechnol. 2013) 2 3
  5. Novel and functional variants within the TBX18 gene promoter in ventricular septal defects. (PMID: 23749171) Ma L. … Yan B. (Mol. Cell. Biochem. 2013) 3

Products for TBX18 Gene

Sources for TBX18 Gene

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