Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBX18 (T-box transcription factor 18)

Identity

Alias (NCBI)CAKUT2
HGNC (Hugo) TBX18
HGNC Previous nameT-box 18
LocusID (NCBI) 9096
Atlas_Id 50239
Location 6q14.3  [Link to chromosome band 6q14]
Location_base_pair Starts at 84732496 and ends at 84764598 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PMS2P1 (7q22.1) / TBX18 (6q14.3)TBX18 (6q14.3) / RCAN2 (6p21.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)TBX18   11595
Cards
Entrez_Gene (NCBI)TBX18    T-box transcription factor 18
AliasesCAKUT2
GeneCards (Weizmann)TBX18
Ensembl hg19 (Hinxton)ENSG00000112837 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112837 [Gene_View]  ENSG00000112837 [Sequence]  chr6:84732496-84764598 [Contig_View]  TBX18 [Vega]
ICGC DataPortalENSG00000112837
TCGA cBioPortalTBX18
AceView (NCBI)TBX18
Genatlas (Paris)TBX18
SOURCE (Princeton)TBX18
Genetics Home Reference (NIH)TBX18
Genomic and cartography
GoldenPath hg38 (UCSC)TBX18  -     chr6:84732496-84764598 -  6q14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBX18  -     6q14.3   [Description]    (hg19-Feb_2009)
GoldenPathTBX18 - 6q14.3 [CytoView hg19]  TBX18 - 6q14.3 [CytoView hg38]
ImmunoBaseENSG00000112837
Genome Data Viewer NCBITBX18 [Mapview hg19]  
OMIM143400   604613   
Gene and transcription
Genbank (Entrez)AJ010278 AK310179 BC040697 BC132715 BC157841
RefSeq transcript (Entrez)NM_001080508
Consensus coding sequences : CCDS (NCBI)TBX18
Gene ExpressionTBX18 [ NCBI-GEO ]   TBX18 [ EBI - ARRAY_EXPRESS ]   TBX18 [ SEEK ]   TBX18 [ MEM ]
Gene Expression Viewer (FireBrowse)TBX18 [ Firebrowse - Broad ]
GenevisibleExpression of TBX18 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9096
GTEX Portal (Tissue expression)TBX18
Human Protein AtlasENSG00000112837-TBX18 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95935   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95935  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95935
PhosPhoSitePlusO95935
Domaine pattern : Prosite (Expaxy)TBOX_1 (PS01283)    TBOX_2 (PS01264)    TBOX_3 (PS50252)   
Domains : Interpro (EBI)p53-like_TF_DNA-bd    T-box_sf    TF_T-box    TF_T-box_CS   
Domain families : Pfam (Sanger)T-box (PF00907)   
Domain families : Pfam (NCBI)pfam00907   
Domain families : Smart (EMBL)TBOX (SM00425)  
Conserved Domain (NCBI)TBX18
SuperfamilyO95935
AlphaFold pdb e-kbO95935   
Human Protein Atlas [tissue]ENSG00000112837-TBX18 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)O95935
IntAct (EBI)O95935
BioGRIDTBX18
STRING (EMBL)TBX18
ZODIACTBX18
Ontologies - Pathways
QuickGOO95935
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromatin  transcription cis-regulatory region binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  cell fate specification  somitogenesis  somitogenesis  sinoatrial node development  protein binding  nucleus  nucleus  nucleoplasm  regulation of transcription by RNA polymerase II  morphogenesis of embryonic epithelium  protein homodimerization activity  smooth muscle cell differentiation  negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation  sinoatrial node cell fate commitment  sinoatrial node cell development  ureter development  cochlea morphogenesis  RNA polymerase II transcription repressor complex  regulation of SA node cell action potential  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromatin  transcription cis-regulatory region binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  cell fate specification  somitogenesis  somitogenesis  sinoatrial node development  protein binding  nucleus  nucleus  nucleoplasm  regulation of transcription by RNA polymerase II  morphogenesis of embryonic epithelium  protein homodimerization activity  smooth muscle cell differentiation  negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation  sinoatrial node cell fate commitment  sinoatrial node cell development  ureter development  cochlea morphogenesis  RNA polymerase II transcription repressor complex  regulation of SA node cell action potential  sequence-specific double-stranded DNA binding  
NDEx NetworkTBX18
Atlas of Cancer Signalling NetworkTBX18
Wikipedia pathwaysTBX18
Orthology - Evolution
OrthoDB9096
GeneTree (enSembl)ENSG00000112837
Phylogenetic Trees/Animal Genes : TreeFamTBX18
Homologs : HomoloGeneTBX18
Homology/Alignments : Family Browser (UCSC)TBX18
Gene fusions - Rearrangements
Fusion : QuiverTBX18
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBX18 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBX18
dbVarTBX18
ClinVarTBX18
MonarchTBX18
1000_GenomesTBX18 
Exome Variant ServerTBX18
GNOMAD BrowserENSG00000112837
Varsome BrowserTBX18
ACMGTBX18 variants
VarityO95935
Genomic Variants (DGV)TBX18 [DGVbeta]
DECIPHERTBX18 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBX18 
Mutations
ICGC Data PortalTBX18 
TCGA Data PortalTBX18 
Broad Tumor PortalTBX18
OASIS PortalTBX18 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBX18  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTBX18
Mutations and Diseases : HGMDTBX18
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBX18
DgiDB (Drug Gene Interaction Database)TBX18
DoCM (Curated mutations)TBX18
CIViC (Clinical Interpretations of Variants in Cancer)TBX18
Cancer3DTBX18
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM143400    604613   
Orphanet2076   
DisGeNETTBX18
MedgenTBX18
Genetic Testing Registry TBX18
NextProtO95935 [Medical]
GENETestsTBX18
Target ValidationTBX18
Huge Navigator TBX18 [HugePedia]
ClinGenTBX18
Clinical trials, drugs, therapy
MyCancerGenomeTBX18
Protein Interactions : CTDTBX18
Pharm GKB GenePA36358
PharosO95935
Clinical trialTBX18
Miscellaneous
canSAR (ICR)TBX18
HarmonizomeTBX18
DataMed IndexTBX18
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBX18
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:34:30 CEST 2021

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