Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBX18 (T-box 18)

Identity

Other aliasCAKUT2
HGNC (Hugo) TBX18
LocusID (NCBI) 9096
Atlas_Id 50239
Location 6q14.3  [Link to chromosome band 6q14]
Location_base_pair Starts at 84732496 and ends at 84764236 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  9096  T-box 18
AliasesCAKUT2
GeneCards (Weizmann)TBX18
Ensembl hg19 (Hinxton)ENSG00000112837 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112837 [Gene_View]  ENSG00000112837 [Sequence]  chr6:84732496-84764236 [Contig_View]  TBX18 [Vega]
ICGC DataPortalENSG00000112837
TCGA cBioPortalTBX18
AceView (NCBI)TBX18
Genatlas (Paris)TBX18
WikiGenes9096
SOURCE (Princeton)TBX18
Genetics Home Reference (NIH)TBX18
Genomic and cartography
GoldenPath hg38 (UCSC)TBX18  -     chr6:84732496-84764236 -  6q14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBX18  -     6q14.3   [Description]    (hg19-Feb_2009)
EnsemblTBX18 - 6q14.3 [CytoView hg19]  TBX18 - 6q14.3 [CytoView hg38]
Mapping of homologs : NCBITBX18 [Mapview hg19]  TBX18 [Mapview hg38]
OMIM143400   604613   
Gene and transcription
Genbank (Entrez)AJ010278 AK310179 BC040697 BC132715 BC157841
RefSeq transcript (Entrez)NM_001080508
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBX18
Cluster EST : UnigeneHs.251830 [ NCBI ]
CGAP (NCI)Hs.251830
Alternative Splicing GalleryENSG00000112837
Gene ExpressionTBX18 [ NCBI-GEO ]   TBX18 [ EBI - ARRAY_EXPRESS ]   TBX18 [ SEEK ]   TBX18 [ MEM ]
Gene Expression Viewer (FireBrowse)TBX18 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
Splice isoforms : SwissVarO95935
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
DMDM Disease mutations9096
Blocks (Seattle)TBX18
SuperfamilyO95935
Human Protein Atlas [tissue]ENSG00000112837-TBX18 [tissue]
Peptide AtlasO95935
IPIIPI00409658   IPI01012073   
Protein Interaction databases
DIP (DOE-UCLA)O95935
IntAct (EBI)O95935
FunCoupENSG00000112837
BioGRIDTBX18
STRING (EMBL)TBX18
ZODIACTBX18
Ontologies - Pathways
QuickGOO95935
Ontology : AmiGOtranscription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  transcription corepressor activity  protein binding  nucleus  nucleus  regulation of transcription by RNA polymerase II  protein homodimerization activity  protein heterodimerization activity  negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation  renal system development  negative regulation of nucleic acid-templated transcription  
Ontology : EGO-EBItranscription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  transcription corepressor activity  protein binding  nucleus  nucleus  regulation of transcription by RNA polymerase II  protein homodimerization activity  protein heterodimerization activity  negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation  renal system development  negative regulation of nucleic acid-templated transcription  
NDEx NetworkTBX18
Atlas of Cancer Signalling NetworkTBX18
Wikipedia pathwaysTBX18
Orthology - Evolution
OrthoDB9096
GeneTree (enSembl)ENSG00000112837
Phylogenetic Trees/Animal Genes : TreeFamTBX18
HOVERGENO95935
HOGENOMO95935
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
1000_GenomesTBX18 
Exome Variant ServerTBX18
ExAC (Exome Aggregation Consortium)ENSG00000112837
GNOMAD BrowserENSG00000112837
Varsome BrowserTBX18
Genetic variants : HAPMAP9096
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]  
Mutations and Diseases : HGMDTBX18
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TBX18
DgiDB (Drug Gene Interaction Database)TBX18
DoCM (Curated mutations)TBX18 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBX18 (select a term)
intoGenTBX18
Cancer3DTBX18(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM143400    604613   
Orphanet2076   
DisGeNETTBX18
MedgenTBX18
Genetic Testing Registry TBX18
NextProtO95935 [Medical]
TSGene9096
GENETestsTBX18
Target ValidationTBX18
Huge Navigator TBX18 [HugePedia]
snp3D : Map Gene to Disease9096
BioCentury BCIQTBX18
ClinGenTBX18
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9096
Chemical/Pharm GKB GenePA36358
Clinical trialTBX18
Miscellaneous
canSAR (ICR)TBX18 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBX18
EVEXTBX18
GoPubMedTBX18
iHOPTBX18
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:44:04 CET 2018

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