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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 Congenital Anomalies Of Kidney And Urinary Tract 2 and Bilateral Multicystic Dysplastic Kidney. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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.

Additional gene information for TBX18 Gene

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

GeneHancer (GH) Regulatory Elements for TBX18 Gene

Promoters and enhancers for TBX18 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
GH06I084760 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.8 807 7.7 PKNOX1 SMAD1 ARNT SIN3A FEZF1 ZNF2 POLR2B ZNF213 FOS KLF13 TBX18 CEP162 SNX14 TBX18-AS1 GC06P084760 GC06P084744
GH06I084791 Enhancer 0.8 ENCODE 11.9 -26.8 -26799 0.9 MEIS2 ATF1 LEF1 TEAD4 JUN BACH1 FOSL1 ZNF766 ZNF316 POLR2A CEP162 TBX18 GC06P084744 GC06P084876
GH06I084771 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 3.5 -8.5 -8483 4.2 FEZF1 ZNF2 GLIS2 ZNF213 ZNF143 KLF7 KLF13 REST CBX8 ZNF610 SYNCRIP TBX18-AS1 TBX18 GC06P084744 GC06P084876
GH06I085271 Enhancer 0.7 VISTA ENCODE 4.8 -508.0 -508028 3.2 E2F1 HLF SCRT2 SETDB1 TBX18 KRT18P30 GC06P085258
GH06I085185 Enhancer 0.4 VISTA 5.3 -422.4 -422363 2.4 STAT3 FOS ATF2 TBX18 LOC100421583 RPL31P32
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBX18 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for TBX18 Gene

Genomic Locations for TBX18 Gene
chr6:84,687,351-84,764,730
(GRCh38/hg38)
Size:
77,380 bases
Orientation:
Minus strand
chr6:85,397,069-85,474,237
(GRCh37/hg19)

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 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 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

Post-translational modifications for TBX18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TBX18 Gene

Domains & Families for TBX18 Gene

Gene Families for TBX18 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TBX18 Gene

Suggested Antigen Peptide Sequences for TBX18 Gene

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

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.

Phenotypes From GWAS Catalog for TBX18 Gene

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 DNA binding transcription factor activity 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

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

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 IEA,ISS --
genes like me logo Genes that share ontologies with TBX18: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TBX18 Gene

Pathways & Interactions for TBX18 Gene

SuperPathways for TBX18 Gene

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 by RNA polymerase II 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

No Compound Related Data Available

Transcripts for TBX18 Gene

mRNA/cDNA for TBX18 Gene

Unigene Clusters for TBX18 Gene

T-box 18:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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
Regions:
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 33 34
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia TBX18 33 34
  • 92.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBX18 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBX18 33 34
  • 91.49 (n)
rat
(Rattus norvegicus)
Mammalia Tbx18 33
  • 88.39 (n)
mouse
(Mus musculus)
Mammalia Tbx18 33 16 34
  • 88.36 (n)
oppossum
(Monodelphis domestica)
Mammalia TBX18 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBX18 33 34
  • 80.63 (n)
lizard
(Anolis carolinensis)
Reptilia TBX18 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx18 33
  • 74.38 (n)
zebrafish
(Danio rerio)
Actinopterygii tbx18 33 33 34
  • 66.91 (n)
worm
(Caenorhabditis elegans)
Secernentea mls-1 34
  • 46 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs760905589 pathogenic, Multicystic renal dysplasia, bilateral, Congenital anomalies of kidney and urinary tract 2 (CAKUT2) [MIM:143400] 84,736,939(-) G/A coding_sequence_variant, intron_variant, missense_variant
rs797045022 pathogenic, Multicystic renal dysplasia, bilateral, Congenital anomalies of kidney and urinary tract 2 (CAKUT2) [MIM:143400] 84,762,554(-) T/C coding_sequence_variant, missense_variant
rs869320679 pathogenic, Multicystic renal dysplasia, bilateral 84,738,586(-) CCC/CC coding_sequence_variant, frameshift
rs886041719 pathogenic, not provided 84,737,224(-) G/A coding_sequence_variant, intron_variant, stop_gained
rs1085307514 uncertain-significance, not specified 84,744,318(-) C/T coding_sequence_variant, missense_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)

Additional Variant Information for TBX18 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TBX18 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
congenital anomalies of kidney and urinary tract 2
  • cakut2
bilateral multicystic dysplastic kidney
  • multicystic renal dysplasia, bilateral
posterior urethral valves
  • posterior urethral valve
ulnar-mammary syndrome
  • ums
sinoatrial node disease
  • sa node
- 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.

Additional Disease Information for 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 CH … Brook JD (Genomics 1999) 2 3 4 58
  2. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. (PMID: 26235987) Vivante A … Hildebrandt F (American journal of human genetics 2015) 3 4 58
  3. Direct conversion of quiescent cardiomyocytes to pacemaker cells by expression of Tbx18. (PMID: 23242162) Kapoor N … Cho HC (Nature biotechnology 2013) 2 3 58
  4. T-genes and limb bud development. (PMID: 16688725) King M … Morrow BE (American journal of medical genetics. Part A 2006) 2 3 58
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58

Products for TBX18 Gene

Sources for TBX18 Gene

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