Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBX5 (T-box transcription factor 5)

Identity

Alias (NCBI)HOS
HGNC (Hugo) TBX5
HGNC Previous nameHOS
HGNC Previous nameT-box 5
LocusID (NCBI) 6910
Atlas_Id 45532
Location 12q24.21  [Link to chromosome band 12q24]
Location_base_pair Starts at 114353911 and ends at 114406144 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)
NAA25 (12q24.13) / TBX5 (12q24.21)NAA25 12q24.13 / TBX5 12q24.21

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)TBX5   11604
LRG (Locus Reference Genomic)LRG_670
Cards
Entrez_Gene (NCBI)TBX5    T-box transcription factor 5
AliasesHOS
GeneCards (Weizmann)TBX5
Ensembl hg19 (Hinxton)ENSG00000089225 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000089225 [Gene_View]  ENSG00000089225 [Sequence]  chr12:114353911-114406144 [Contig_View]  TBX5 [Vega]
ICGC DataPortalENSG00000089225
TCGA cBioPortalTBX5
AceView (NCBI)TBX5
Genatlas (Paris)TBX5
SOURCE (Princeton)TBX5
Genetics Home Reference (NIH)TBX5
Genomic and cartography
GoldenPath hg38 (UCSC)TBX5  -     chr12:114353911-114406144 -  12q24.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBX5  -     12q24.21   [Description]    (hg19-Feb_2009)
GoldenPathTBX5 - 12q24.21 [CytoView hg19]  TBX5 - 12q24.21 [CytoView hg38]
ImmunoBaseENSG00000089225
Genome Data Viewer NCBITBX5 [Mapview hg19]  
OMIM142900   601620   
Gene and transcription
Genbank (Entrez)AB051068 AF086146 AF221714 AK290611 AK300251
RefSeq transcript (Entrez)NM_000192 NM_080717 NM_080718 NM_181486
Consensus coding sequences : CCDS (NCBI)TBX5
Gene ExpressionTBX5 [ NCBI-GEO ]   TBX5 [ EBI - ARRAY_EXPRESS ]   TBX5 [ SEEK ]   TBX5 [ MEM ]
Gene Expression Viewer (FireBrowse)TBX5 [ Firebrowse - Broad ]
GenevisibleExpression of TBX5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6910
GTEX Portal (Tissue expression)TBX5
Human Protein AtlasENSG00000089225-TBX5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99593   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99593  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99593
PhosPhoSitePlusQ99593
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)TBX5
PDB (RSDB)2X6U    2X6V    4S0H    5BQD   
PDB Europe2X6U    2X6V    4S0H    5BQD   
PDB (PDBSum)2X6U    2X6V    4S0H    5BQD   
PDB (IMB)2X6U    2X6V    4S0H    5BQD   
Structural Biology KnowledgeBase2X6U    2X6V    4S0H    5BQD   
SCOP (Structural Classification of Proteins)2X6U    2X6V    4S0H    5BQD   
CATH (Classification of proteins structures)2X6U    2X6V    4S0H    5BQD   
SuperfamilyQ99593
AlphaFold pdb e-kbQ99593   
Human Protein Atlas [tissue]ENSG00000089225-TBX5 [tissue]
HPRD03372
Protein Interaction databases
DIP (DOE-UCLA)Q99593
IntAct (EBI)Q99593
BioGRIDTBX5
STRING (EMBL)TBX5
ZODIACTBX5
Ontologies - Pathways
QuickGOQ99593
Ontology : AmiGOchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA 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 factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  cell fate specification  morphogenesis of an epithelium  bundle of His development  atrioventricular bundle cell differentiation  atrioventricular valve morphogenesis  endocardial cushion development  cardiac left ventricle formation  cardiac left ventricle formation  ventricular septum development  DNA binding  DNA-binding transcription factor activity  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytoplasm  regulation of transcription by RNA polymerase II  transcription initiation from RNA polymerase II promoter  cell-cell signaling  pattern specification process  heart development  heart development  heart development  transcription factor binding  negative regulation of cell population proliferation  negative regulation of epithelial to mesenchymal transition  lung development  embryonic limb morphogenesis  negative regulation of cell migration  protein-containing complex  protein-DNA complex  embryonic forelimb morphogenesis  embryonic forelimb morphogenesis  forelimb morphogenesis  sequence-specific DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of cardioblast differentiation  pericardium development  negative regulation of cardiac muscle cell proliferation  positive regulation of cardiac muscle cell proliferation  regulation of atrial cardiac muscle cell membrane depolarization  atrial septum morphogenesis  atrioventricular node cell development  atrioventricular node cell fate commitment  cell migration involved in coronary vasculogenesis  positive regulation of secondary heart field cardioblast proliferation  cell-cell signaling involved in cardiac conduction  bundle of His cell to Purkinje myocyte communication by electrical coupling  positive regulation of cell communication by electrical coupling involved in cardiac conduction  positive regulation of gap junction assembly  positive regulation of cardiac conduction  
Ontology : EGO-EBIchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA 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 factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  cell fate specification  morphogenesis of an epithelium  bundle of His development  atrioventricular bundle cell differentiation  atrioventricular valve morphogenesis  endocardial cushion development  cardiac left ventricle formation  cardiac left ventricle formation  ventricular septum development  DNA binding  DNA-binding transcription factor activity  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytoplasm  regulation of transcription by RNA polymerase II  transcription initiation from RNA polymerase II promoter  cell-cell signaling  pattern specification process  heart development  heart development  heart development  transcription factor binding  negative regulation of cell population proliferation  negative regulation of epithelial to mesenchymal transition  lung development  embryonic limb morphogenesis  negative regulation of cell migration  protein-containing complex  protein-DNA complex  embryonic forelimb morphogenesis  embryonic forelimb morphogenesis  forelimb morphogenesis  sequence-specific DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of cardioblast differentiation  pericardium development  negative regulation of cardiac muscle cell proliferation  positive regulation of cardiac muscle cell proliferation  regulation of atrial cardiac muscle cell membrane depolarization  atrial septum morphogenesis  atrioventricular node cell development  atrioventricular node cell fate commitment  cell migration involved in coronary vasculogenesis  positive regulation of secondary heart field cardioblast proliferation  cell-cell signaling involved in cardiac conduction  bundle of His cell to Purkinje myocyte communication by electrical coupling  positive regulation of cell communication by electrical coupling involved in cardiac conduction  positive regulation of gap junction assembly  positive regulation of cardiac conduction  
NDEx NetworkTBX5
Atlas of Cancer Signalling NetworkTBX5
Wikipedia pathwaysTBX5
Orthology - Evolution
OrthoDB6910
GeneTree (enSembl)ENSG00000089225
Phylogenetic Trees/Animal Genes : TreeFamTBX5
Homologs : HomoloGeneTBX5
Homology/Alignments : Family Browser (UCSC)TBX5
Gene fusions - Rearrangements
Fusion : MitelmanNAA25/TBX5 [12q24.13/12q24.21]  
Fusion : QuiverTBX5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBX5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBX5
dbVarTBX5
ClinVarTBX5
MonarchTBX5
1000_GenomesTBX5 
Exome Variant ServerTBX5
GNOMAD BrowserENSG00000089225
Varsome BrowserTBX5
ACMGTBX5 variants
VarityQ99593
Genomic Variants (DGV)TBX5 [DGVbeta]
DECIPHERTBX5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBX5 
Mutations
ICGC Data PortalTBX5 
TCGA Data PortalTBX5 
Broad Tumor PortalTBX5
OASIS PortalTBX5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBX5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTBX5
Mutations and Diseases : HGMDTBX5
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBX5
DgiDB (Drug Gene Interaction Database)TBX5
DoCM (Curated mutations)TBX5
CIViC (Clinical Interpretations of Variants in Cancer)TBX5
Cancer3DTBX5
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142900    601620   
Orphanet1023   
DisGeNETTBX5
MedgenTBX5
Genetic Testing Registry TBX5
NextProtQ99593 [Medical]
GENETestsTBX5
Target ValidationTBX5
Huge Navigator TBX5 [HugePedia]
ClinGenTBX5 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeTBX5
Protein Interactions : CTDTBX5
Pharm GKB GenePA36367
PharosQ99593
Clinical trialTBX5
Miscellaneous
canSAR (ICR)TBX5
HarmonizomeTBX5
DataMed IndexTBX5
Probes
Litterature
PubMed140 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBX5
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 15:34:31 CEST 2021

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