Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBX6 (T-box transcription factor 6)

Identity

Alias (NCBI)SCDO5
HGNC (Hugo) TBX6
HGNC Previous nameT-box 6
LocusID (NCBI) 6911
Atlas_Id 57456
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 30085794 and ends at 30091884 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)

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)TBX6   11605
Cards
Entrez_Gene (NCBI)TBX6    T-box transcription factor 6
AliasesSCDO5
GeneCards (Weizmann)TBX6
Ensembl hg19 (Hinxton)ENSG00000149922 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149922 [Gene_View]  ENSG00000149922 [Sequence]  chr16:30085794-30091884 [Contig_View]  TBX6 [Vega]
ICGC DataPortalENSG00000149922
TCGA cBioPortalTBX6
AceView (NCBI)TBX6
Genatlas (Paris)TBX6
SOURCE (Princeton)TBX6
Genetics Home Reference (NIH)TBX6
Genomic and cartography
GoldenPath hg38 (UCSC)TBX6  -     chr16:30085794-30091884 -  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBX6  -     16p11.2   [Description]    (hg19-Feb_2009)
GoldenPathTBX6 - 16p11.2 [CytoView hg19]  TBX6 - 16p11.2 [CytoView hg38]
ImmunoBaseENSG00000149922
Genome Data Viewer NCBITBX6 [Mapview hg19]  
OMIM122600   602427   
Gene and transcription
Genbank (Entrez)AJ007989 AK022330 BC026031 KJ534981 KJ535035
RefSeq transcript (Entrez)NM_004608 NM_080758
Consensus coding sequences : CCDS (NCBI)TBX6
Gene ExpressionTBX6 [ NCBI-GEO ]   TBX6 [ EBI - ARRAY_EXPRESS ]   TBX6 [ SEEK ]   TBX6 [ MEM ]
Gene Expression Viewer (FireBrowse)TBX6 [ Firebrowse - Broad ]
GenevisibleExpression of TBX6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6911
GTEX Portal (Tissue expression)TBX6
Human Protein AtlasENSG00000149922-TBX6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95947   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95947  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95947
PhosPhoSitePlusO95947
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_Brachyury    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)TBX6
SuperfamilyO95947
AlphaFold pdb e-kbO95947   
Human Protein Atlas [tissue]ENSG00000149922-TBX6 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)O95947
IntAct (EBI)O95947
BioGRIDTBX6
STRING (EMBL)TBX6
ZODIACTBX6
Ontologies - Pathways
QuickGOO95947
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromatin  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  mesoderm formation  cell fate specification  heart looping  cardiac chamber development  DNA binding  protein binding  nucleus  regulation of transcription by RNA polymerase II  central nervous system development  mesoderm development  positive regulation of cell population proliferation  anatomical structure morphogenesis  negative regulation of neuron projection development  negative regulation of neuron maturation  signal transduction involved in regulation of gene expression  somite rostral/caudal axis specification  negative regulation of DNA-binding transcription factor activity  positive regulation of transcription by RNA polymerase II  RNA polymerase II-specific DNA-binding transcription factor binding  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromatin  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  mesoderm formation  cell fate specification  heart looping  cardiac chamber development  DNA binding  protein binding  nucleus  regulation of transcription by RNA polymerase II  central nervous system development  mesoderm development  positive regulation of cell population proliferation  anatomical structure morphogenesis  negative regulation of neuron projection development  negative regulation of neuron maturation  signal transduction involved in regulation of gene expression  somite rostral/caudal axis specification  negative regulation of DNA-binding transcription factor activity  positive regulation of transcription by RNA polymerase II  RNA polymerase II-specific DNA-binding transcription factor binding  sequence-specific double-stranded DNA binding  
NDEx NetworkTBX6
Atlas of Cancer Signalling NetworkTBX6
Wikipedia pathwaysTBX6
Orthology - Evolution
OrthoDB6911
GeneTree (enSembl)ENSG00000149922
Phylogenetic Trees/Animal Genes : TreeFamTBX6
Homologs : HomoloGeneTBX6
Homology/Alignments : Family Browser (UCSC)TBX6
Gene fusions - Rearrangements
Fusion : QuiverTBX6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBX6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBX6
dbVarTBX6
ClinVarTBX6
MonarchTBX6
1000_GenomesTBX6 
Exome Variant ServerTBX6
GNOMAD BrowserENSG00000149922
Varsome BrowserTBX6
ACMGTBX6 variants
VarityO95947
Genomic Variants (DGV)TBX6 [DGVbeta]
DECIPHERTBX6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBX6 
Mutations
ICGC Data PortalTBX6 
TCGA Data PortalTBX6 
Broad Tumor PortalTBX6
OASIS PortalTBX6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBX6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTBX6
Mutations and Diseases : HGMDTBX6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBX6
DgiDB (Drug Gene Interaction Database)TBX6
DoCM (Curated mutations)TBX6
CIViC (Clinical Interpretations of Variants in Cancer)TBX6
Cancer3DTBX6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM122600    602427   
Orphanet
DisGeNETTBX6
MedgenTBX6
Genetic Testing Registry TBX6
NextProtO95947 [Medical]
GENETestsTBX6
Target ValidationTBX6
Huge Navigator TBX6 [HugePedia]
ClinGenTBX6
Clinical trials, drugs, therapy
MyCancerGenomeTBX6
Protein Interactions : CTDTBX6
Pharm GKB GenePA36368
PharosO95947
Clinical trialTBX6
Miscellaneous
canSAR (ICR)TBX6
HarmonizomeTBX6
DataMed IndexTBX6
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBX6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:34:31 CEST 2021

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