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TBX18 Gene(Protein Coding)

T-Box 18

GCID:
GC06M084687
GIFtS:
54
Genes Participants
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Aliases for TBX18 Gene

Aliases for TBX18 Gene

  • T-Box 18 2 3 5
  • T-Box Protein 18 3 4
  • T-Box Transcription Factor TBX18 3
  • CAKUT2 3

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. Diseases associated with TBX18 include Pelviureteric Junction Obstruction and Huntington Disease. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is TBX15.

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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBX18 Gene

Genomics for TBX18 Gene

Products:

  1. Regulatory Element

Regulatory Elements for TBX18 Gene

Enhancers for TBX18 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
GH06G084791 0.8 ENCODE 11.9 -26.8 -26799 0.9 CBX3 ATF1 TBL1XR1 ZNF766 GATA2 ZNF350 FOS ETV6 USF2 SMARCA4 CEP162 TBX18 GC06P084876
GH06G084771 1.8 FANTOM5 Ensembl ENCODE dbSUPER 3.5 -8.5 -8483 4.2 FOXA2 PKNOX1 SIN3A FEZF1 ZNF2 GLIS2 GATA2 ZNF143 KLF7 DEK TBX18-AS1 TBX18 GC06P084876
GH06G085271 0.7 VISTA ENCODE 4.8 -508.0 -508029 3.2 E2F1 HLF SCRT2 TBX18 KRT18P30 GC06P085258
GH06G085115 0.6 VISTA 4.5 -353.0 -353041 3.8 CTCF FOXA2 CBX3 NFIB ZNF791 CBX5 SMARCA4 POLR2A KDM1A SNHG5 TBX18 GC06M085108 GC06M085132 PIR49449
GH06G085185 0.5 VISTA 5.3 -422.4 -422363 2.4 STAT3 FOS ATF2 NFE2L2 TBX18 LOC100421583 RPL31P32
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBX18 on UCSC Golden Path with GeneCards custom track

Promoters for TBX18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000199627 1130 2801 PKNOX1 CREB3L1 SIN3A FEZF1 ZNF2 FOS KLF13 SP3 NFYC REST

Transcription factor binding sites by QIAGEN in the TBX18 gene promoter:

Genomic Location for TBX18 Gene

Chromosome:
6
Start:
84,687,351 bp from pter
End:
84,764,730 bp from pter
Size:
77,380 bases
Orientation:
Minus strand

Genomic View for TBX18 Gene

Genes around TBX18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBX18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBX18 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TBX18 Gene

Proteins for TBX18 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 with PAX3 (By similarity). Interacts (via engrailed homology 1 repressor motif) with TLE3; this interaction represses TBX18 transcriptional activity (By similarity) (PubMed:26235987). Interacts with SIX1 (PubMed:26235987).

neXtProt entry for TBX18 Gene

Protein Expression for TBX18 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TBX18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX18 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for TBX18

No data available for DME Specific Peptides for TBX18 Gene

Domains & Families for TBX18 Gene

Gene Families for TBX18 Gene

HGNC:

Protein Domains for TBX18 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBX18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for TBX18 Gene

Function for TBX18 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 26235987
genes like me logo Genes that share ontologies with TBX18: view
genes like me logo Genes that share phenotypes with TBX18: view

Human Phenotype Ontology for TBX18 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBX18 Gene

MGI Knock Outs for TBX18:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Localization for TBX18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX18 Gene

Nucleus.

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 TBX18 gene
Compartment Confidence
nucleus 5
cytosol 3
golgi apparatus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for TBX18 Gene

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

Pathways & Interactions for TBX18 Gene

SuperPathways for TBX18 Gene

PathCards logo More details on SuperPathways for TBX18
No Data Available

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 IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0060829 negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation ISS --
genes like me logo Genes that share ontologies with TBX18: view

No data available for Pathways by source and SIGNOR curated interactions for TBX18 Gene

Drugs & Compounds for TBX18 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for TBX18 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TBX18 Gene

(7) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TBX18 Gene

T-box 18:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBX18 Gene

mRNA expression in normal human tissues for TBX18 Gene
mRNA expression by BioGPS for TBX18 GenemRNA expression by GTEx 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 (x10.7), Artery - Coronary (x7.2), and Artery - Aorta (x4.8).

Protein differential expression in normal tissues from HIPED for TBX18 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBX18 Gene



Protein tissue co-expression partners for TBX18 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBX18 Gene:

TBX18

SOURCE GeneReport for Unigene cluster for TBX18 Gene:

Hs.251830

Evidence on tissue expression from TISSUES for TBX18 Gene

  • Heart(2.3)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBX18 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
  • larynx
  • neck
  • vocal cord
Thorax:
  • lung
Abdomen:
  • abdominal wall
  • kidney
Pelvis:
  • ureter
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with TBX18: view

Primer 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
chimpanzee
(Pan troglodytes)
 Mammalia TBX18 34 35
  • 99.73 (n)
dog
(Canis familiaris)
 Mammalia TBX18 34 35
  • 92.09 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia TBX18 35
  • 92 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia TBX18 34 35
  • 91.49 (n)
rat
(Rattus norvegicus)
 Mammalia Tbx18 34
  • 88.39 (n)
mouse
(Mus musculus)
 Mammalia Tbx18 34 16 35
  • 88.36 (n)
oppossum
(Monodelphis domestica)
 Mammalia TBX18 35
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves TBX18 34 35
  • 80.63 (n)
lizard
(Anolis carolinensis)
 Reptilia TBX18 35
  • 83 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia tbx18 34
  • 74.38 (n)
zebrafish
(Danio rerio)
 Actinopterygii tbx18 34 34 35
  • 66.91 (n)
worm
(Caenorhabditis elegans)
 Secernentea mls-1 35
  • 46 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 23 (a)
 OneToMany
Species where no ortholog for TBX18 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)
  • 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

(15) 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
rs760905589 Pathogenic, Congenital anomalies of kidney and urinary tract 2 (CAKUT2) [MIM:143400] 84,736,939(+) GCTGT(A/G)TAATC intron-variant, reference, missense
rs797045022 Pathogenic, Congenital anomalies of kidney and urinary tract 2 (CAKUT2) [MIM:143400] 84,762,554(-) TCACC(A/G)AGGCC reference, missense
rs869320679 Pathogenic 84,738,586(-) AATGG(-/G)TTTGG reference, frameshift-variant
rs886041719 Pathogenic 84,737,224(-) TCAAC(C/T)GATAC intron-variant, reference, stop-gained
rs1000001327 -- 84,760,594(+) CAGTA(C/T)AGCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBX18 Gene

Variant ID Type Subtype PubMed ID
esv3609800 CNV gain 21293372
nsv1020045 CNV gain 25217958
nsv1021282 CNV loss 25217958

Variation tolerance for TBX18 Gene

Residual Variation Intolerance Score: 65.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.75; 91.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBX18 Gene

Human Gene Mutation Database (HGMD)
TBX18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBX18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX18 Gene

Disorders for TBX18 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TBX18 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pelviureteric junction obstruction
  • congenital anomalies of kidney and urinary tract 2
huntington disease
  • congenital anomalies of kidney and urinary tract 2
congenital anomalies of kidney and urinary tract
  • renal hypodysplasia, nonsyndromic, 1
ulnar-mammary syndrome
  • pallister ulnar-mammary syndrome
posterior urethral valves
  • posterior urethral valve
- elite association - COSMIC cancer census association via MalaCards
Search TBX18 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBX18_HUMAN
  • Congenital anomalies of kidney and urinary tract 2 (CAKUT2) [MIM:143400]: A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children. {ECO:0000269 PubMed:26235987}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBX18

Genetic Association Database (GAD)
TBX18
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBX18
genes like me logo Genes that share disorders with TBX18: view

No data available for 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 64
  2. Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development. (PMID: 26235987) Vivante A. … Hildebrandt F. (Am. J. Hum. Genet. 2015) 3 4 64
  3. Direct conversion of quiescent cardiomyocytes to pacemaker cells by expression of Tbx18. (PMID: 23242162) Kapoor N. … Cho H.C. (Nat. Biotechnol. 2013) 2 3 64
  4. T-genes and limb bud development. (PMID: 16688725) King M. … Morrow B.E. (Am. J. Med. Genet. A 2006) 2 3 64
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64

Products for TBX18 Gene

Sources for TBX18 Gene

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