Aliases for TBX18 Gene
Aliases for TBX18 Gene
External Ids for TBX18 Gene
- HGNC: 11595
- Entrez Gene: 9096
- Ensembl: ENSG00000112837
- OMIM: 604613
- UniProtKB: O95935
Previous GeneCards Identifiers for TBX18 Gene
- GC06U990171
- GC06M085413
- GC06M085393
- GC06M085453
- GC06M085500
- GC06M082667
- GC06M085398
- GC06M085444
- GC06M085400
Summaries 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
- Monarch Initiative
- Search for TBX18 at DataMed
- Search for TBX18 at HumanCyc
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
Regulatory Element Products
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:
-
- 6q14.3 by Ensembl
- 6q14.3 by Entrez Gene
- 6q14.3 by HGNC
TBX18 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for TBX18 Gene
Post-translational modifications for TBX18 Gene
No Post-translational modifications
Other Protein References for TBX18 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for TBX18 (TBX18)
- Novus Biologicals Antibodies for TBX18
-
Abcam antibodies for TBX18
- Invitrogen Antibodies for TBX18
- Search GeneTex for Antibodies for TBX18
-
Santa Cruz Biotechnology (SCBT) Antibodies for TBX18
Protein Products
-
OriGene Purified Proteins for TBX18
- Search Origene for MassSpec and Protein Over-expression Lysates for TBX18
- Origene Custom Protein Services for TBX18
- Novus Biologicals lysates for TBX18
- Search GeneTex for Proteins for TBX18
Assay Products
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TBX18 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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
| 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 |
Phenotypes for TBX18 Gene
- MGI mutant phenotypes for TBX18:
-
inferred from 11 alleles
- nervous system phenotype
- respiratory system phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- cellular phenotype
- growth/size/body region phenotype
- integument phenotype
- embryo phenotype
- skeleton phenotype
- renal/urinary system phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for TBX18:
Animal Models for TBX18 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TBX18
-
-
ViGene Biosciences lentiviral particle packaged cDNA for TBX18 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TBX18 gene
- Search ViGene Biosciences for TBX18
CRISPR Products
-
OriGene CRISPR knockouts for TBX18
- genomics-online: gRNA clones - Search results for available TBX18 gene related products
- Applied Biological Materials CRISPR for TBX18
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBX18
- GenScript: Design CRISPR guide RNA sequences for TBX18
miRNA for TBX18 Gene
- miRTarBase miRNAs that target TBX18
-
- hsa-mir-1226-3p (MIRT036442)
- hsa-mir-1206 (MIRT441835)
- hsa-mir-6807-5p (MIRT441836)
- hsa-mir-6516-3p (MIRT441837)
- hsa-mir-376a-2-5p (MIRT441838)
- hsa-mir-3935 (MIRT441839)
- hsa-mir-95-5p (MIRT441840)
- hsa-mir-3668 (MIRT441842)
- hsa-mir-3149 (MIRT445897)
- hsa-mir-653-5p (MIRT445898)
- hsa-mir-568 (MIRT445899)
- hsa-mir-5585-3p (MIRT445900)
- hsa-mir-8068 (MIRT445901)
- hsa-mir-1267 (MIRT445902)
- hsa-mir-33a-3p (MIRT445903)
- hsa-mir-1277-5p (MIRT445904)
- hsa-mir-190a-3p (MIRT520783)
- hsa-mir-101-3p (MIRT520784)
- hsa-mir-5011-5p (MIRT520785)
- hsa-mir-144-3p (MIRT520786)
- hsa-mir-449b-3p (MIRT553718)
- hsa-mir-2681-5p (MIRT553719)
- hsa-mir-5591-3p (MIRT553720)
- hsa-mir-4775 (MIRT553721)
- hsa-mir-4524a-3p (MIRT553722)
- hsa-mir-4735-5p (MIRT553723)
- hsa-mir-4329 (MIRT553724)
- hsa-mir-646 (MIRT553725)
- hsa-mir-590-3p (MIRT553726)
- hsa-mir-4422 (MIRT553727)
- hsa-mir-6835-3p (MIRT553728)
- hsa-mir-6505-5p (MIRT713700)
- hsa-mir-6758-3p (MIRT713701)
miRNA Products
- Search ViGene Biosciences for TBX18
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TBX18
- Browse OriGene Inhibitory RNA Products For TBX18
- genomics-online: shRNA clones - Search results for available TBX18 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TBX18 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TBX18
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TBX18
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available TBX18 gene related products
- orf clones - Search results for available TBX18 gene related products
- Applied Biological Materials Clones for TBX18
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for TBX18
-
ViGene Biosciences adenoviral particle packaged cDNA for TBX18 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for TBX18 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TBX18 gene
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| golgi apparatus | 2 |
| extracellular | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,ISS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TBX18 Gene
Pathways & Interactions for TBX18 Gene
No Data Available
Interacting Proteins 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for TBX18 Gene
Transcripts for TBX18 Gene
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
-
OriGene CRISPR knockouts for TBX18
- genomics-online: gRNA clones - Search results for available TBX18 gene related products
- Applied Biological Materials CRISPR for TBX18
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBX18
- GenScript: Design CRISPR guide RNA sequences for TBX18
miRNA Products
- Search ViGene Biosciences for TBX18
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TBX18
- Browse OriGene Inhibitory RNA Products For TBX18
- genomics-online: shRNA clones - Search results for available TBX18 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TBX18 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TBX18
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TBX18
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available TBX18 gene related products
- orf clones - Search results for available TBX18 gene related products
- Applied Biological Materials Clones for TBX18
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for TBX18 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Valve Cells Atrioventricular Valves
- Epicardial Progenitors Cells Epicardium
- Proepicardial Progenitor cells Proepicardium
- Cardiac Fibroblasts Myocardium
- Vascular Smooth Muscle Cells Coronary Capillary Plexus
-
Somite (Muscoskeletal System)
- Somite Epithelial Cells Sacral Somite
- Somite Epithelial Cells Lumbar Somite
- Presegmented Somitic Mesenchyme Cells Presomitic Mesoderm
- Somite Epithelial Cells Thoracic Somite
- Somite Epithelial Cells Cervical Somite
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
-
Mesoderm (Gastrulation Derivatives)
- Septum Transversum Mesenchyme Cells Septum Transversum
- Septum Transversum
-
Smooth Muscle (Muscoskeletal System)
- Vascular Smooth Muscle Cells Coronary Capillary Plexus
- Vascular Smooth Muscle Cells Coronary Vessels
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
- Autopod
- Blood (Hematopoietic System)
- Mesenchymal Stem Cells
- Umbilical Cord (Extraembryonic Tissues)
-
Paraxial Mesoderm (Gastrulation Derivatives)
- Presegmented Somitic Mesenchyme Cells Presomitic Mesoderm
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Proepicardial Progenitor cells Proepicardium
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
-
Bone (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
-
Cartilage (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
- Eye (Sensory Organs)
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TBX18 Gene:
TBX18SOURCE GeneReport for Unigene cluster for TBX18 Gene:
Hs.251830Evidence 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
Primer Products
-
OriGene qPCR primer pairs for TBX18
- genomics-online: primer clones - Search results for available TBX18 gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TBX18 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | TBX18 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TBX18 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TBX18 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tbx18 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Tbx18 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TBX18 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TBX18 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | TBX18 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tbx18 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tbx18 33 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | mls-1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for TBX18 Gene
(15) SIMAP similar genes for TBX18 Gene using alignment to 5 proteins:
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3609800 | CNV | gain | 21293372 |
| nsv1020045 | CNV | gain | 25217958 |
| nsv1021282 | CNV | loss | 25217958 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX18 Gene
Disorders for TBX18 Gene
(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 |
|
|
| bilateral multicystic dysplastic kidney |
|
|
| posterior urethral valves |
|
|
| ulnar-mammary syndrome |
|
|
| sinoatrial node disease |
|
|
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
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TBX18 Gene
Publications for TBX18 Gene
- 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
- 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
- Direct conversion of quiescent cardiomyocytes to pacemaker cells by expression of Tbx18. (PMID: 23242162) Kapoor N … Cho HC (Nature biotechnology 2013) 2 3 58
- T-genes and limb bud development. (PMID: 16688725) King M … Morrow BE (American journal of medical genetics. Part A 2006) 2 3 58
- The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
Products for TBX18 Gene
- R&D Systems Antibodies for TBX18 (TBX18)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for TBX18
- Search Origene for MassSpec and Protein Over-expression Lysates for TBX18
- Origene Custom Protein Services for TBX18
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TBX18
- Browse OriGene Inhibitory RNA Products For TBX18
- OriGene qPCR primer pairs for TBX18
- OriGene CRISPR knockouts for TBX18
- OriGene ORF clones in human for TBX18
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For TBX18
- GenScript: Next-day shipping of latest version cDNA ORF clones for TBX18 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for TBX18
- GenScript Custom Assay Services for TBX18
- GenScript Custom overexpressing Cell Line Services for TBX18
- GenScript: Design CRISPR guide RNA sequences for TBX18
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for TBX18
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for TBX18
- Novus Biologicals lysates for TBX18
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for TBX18
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for TBX18
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for TBX18
- VectorBuilder custom plasmid, inducible vectors for TBX18
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TBX18
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 52 available TBX18 Antibodies ranked by validation data
- Compare Top TBX18 Antibodies
- antibodies-online: Search results for 1 available TBX18 Elisa Kits ranked by validation data
- Compare Top TBX18 Elisa Kits
- antibodies-online: Search results for 7 available TBX18 Proteins ranked by validation data
- Compare Top TBX18 Proteins
- Search GeneTex for Antibodies for TBX18
- Search GeneTex for Proteins for TBX18
- ViGene Biosciences adenoviral particle packaged cDNA for TBX18 gene
- ViGene Biosciences lentiviral particle packaged cDNA for TBX18 gene
- ViGene Biosciences ready-to-package AAV shRNAs for TBX18 gene
- Search ViGene Biosciences for TBX18
- Santa Cruz Biotechnology (SCBT) Antibodies for TBX18
- Search Santa Cruz Biotechnology (SCBT) for TBX18 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TBX18
- Horizon Cell Lines for TBX18
- genomics-online: cdna clones - Search results for available TBX18 gene related products
- orf clones - Search results for available TBX18 gene related products
- genomics-online: gRNA clones - Search results for available TBX18 gene related products
- genomics-online: primer clones - Search results for available TBX18 gene related products
- genomics-online: shRNA clones - Search results for available TBX18 gene related products
Sources for TBX18 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew