Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TBX5 (T-box 5)

Identity

Other namesHOS
HGNC (Hugo) TBX5
LocusID (NCBI) 6910
Location 12q24.21
Location_base_pair Starts at 114791735 and ends at 114846247 bp from pter ( according to hg19-Feb_2009)
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
Cards
Entrez_Gene (NCBI)TBX5  6910  T-box 5
GeneCards (Weizmann)TBX5
Ensembl (Hinxton)ENSG00000089225 [Gene_View]  chr12:114791735-114846247 [Contig_View]  TBX5 [Vega]
AceView (NCBI)TBX5
Genatlas (Paris)TBX5
WikiGenes6910
SOURCE (Princeton)NM_000192 NM_080717 NM_080718 NM_181486
Genomic and cartography
GoldenPath (UCSC)TBX5  -  12q24.21   chr12:114791735-114846247 -  12q24.21   [Description]    (hg19-Feb_2009)
EnsemblTBX5 - 12q24.21 [CytoView]
Mapping of homologs : NCBITBX5 [Mapview]
OMIM142900   601620   
Gene and transcription
Genbank (Entrez)AB051068 AF086146 AF221714 AK290611 AK300251
RefSeq transcript (Entrez)NM_000192 NM_080717 NM_080718 NM_181486
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_007373 NT_009775 NW_001838063 NW_004929385
Consensus coding sequences : CCDS (NCBI)TBX5
Cluster EST : UnigeneHs.381715 [ NCBI ]
CGAP (NCI)Hs.381715
Alternative Splicing : Fast-db (Paris)GSHG0007805
Alternative Splicing GalleryENSG00000089225
Gene ExpressionTBX5 [ NCBI-GEO ]     TBX5 [ SEEK ]   TBX5 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99593 (Uniprot)
NextProtQ99593  [Medical]
With graphics : InterProQ99593
Splice isoforms : SwissVarQ99593 (Swissvar)
Domaine pattern : Prosite (Expaxy)TBOX_1 (PS01283)    TBOX_2 (PS01264)    TBOX_3 (PS50252)   
Domains : Interpro (EBI)p53-like_TF_DNA-bd    TF_T-box    TF_T-box_CS   
Related proteins : CluSTrQ99593
Domain families : Pfam (Sanger)T-box (PF00907)   
Domain families : Pfam (NCBI)pfam00907   
Domain families : Smart (EMBL)TBOX (SM00425)  
DMDM Disease mutations6910
Blocks (Seattle)Q99593
PDB (SRS)2X6U    2X6V   
PDB (PDBSum)2X6U    2X6V   
PDB (IMB)2X6U    2X6V   
PDB (RSDB)2X6U    2X6V   
Human Protein AtlasENSG00000089225
Peptide AtlasQ99593
HPRD03372
IPIIPI00218492   IPI00216449   IPI00910348   IPI00335687   IPI00082832   
Protein Interaction databases
DIP (DOE-UCLA)Q99593
IntAct (EBI)Q99593
FunCoupENSG00000089225
BioGRIDTBX5
InParanoidQ99593
Interologous Interaction database Q99593
IntegromeDBTBX5
STRING (EMBL)TBX5
Ontologies - Pathways
Ontology : AmiGORNA polymerase II regulatory region sequence-specific DNA binding  morphogenesis of an epithelium  bundle of His development  atrioventricular valve morphogenesis  endocardial cushion development  cardiac left ventricle formation  ventricular cardiac muscle tissue development  ventricular septum development  atrial septum development  DNA binding  sequence-specific DNA binding transcription factor activity  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleoplasm  transcription factor complex  cytoplasm  cytoplasm  transcription initiation from RNA polymerase II promoter  cell-cell signaling  pattern specification process  heart development  heart development  transcription factor binding  negative regulation of cell proliferation  gene expression  negative regulation of epithelial to mesenchymal transition  apoptotic nuclear changes  lung development  embryonic limb morphogenesis  negative regulation of cell migration  embryonic forelimb morphogenesis  forelimb morphogenesis  sequence-specific DNA binding  positive regulation of transcription, DNA-dependent  positive regulation of transcription from RNA polymerase II promoter  positive regulation of cardioblast differentiation  cardiac muscle cell differentiation  pericardium development  negative regulation of cardiac muscle cell proliferation  positive regulation of cardiac muscle cell proliferation  cell migration involved in coronary vasculogenesis  regulation of execution phase of apoptosis  
Ontology : EGO-EBIRNA polymerase II regulatory region sequence-specific DNA binding  morphogenesis of an epithelium  bundle of His development  atrioventricular valve morphogenesis  endocardial cushion development  cardiac left ventricle formation  ventricular cardiac muscle tissue development  ventricular septum development  atrial septum development  DNA binding  sequence-specific DNA binding transcription factor activity  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleoplasm  transcription factor complex  cytoplasm  cytoplasm  transcription initiation from RNA polymerase II promoter  cell-cell signaling  pattern specification process  heart development  heart development  transcription factor binding  negative regulation of cell proliferation  gene expression  negative regulation of epithelial to mesenchymal transition  apoptotic nuclear changes  lung development  embryonic limb morphogenesis  negative regulation of cell migration  embryonic forelimb morphogenesis  forelimb morphogenesis  sequence-specific DNA binding  positive regulation of transcription, DNA-dependent  positive regulation of transcription from RNA polymerase II promoter  positive regulation of cardioblast differentiation  cardiac muscle cell differentiation  pericardium development  negative regulation of cardiac muscle cell proliferation  positive regulation of cardiac muscle cell proliferation  cell migration involved in coronary vasculogenesis  regulation of execution phase of apoptosis  
REACTOMETBX5
Protein Interaction DatabaseTBX5
Wikipedia pathwaysTBX5
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)TBX5
SNP (GeneSNP Utah)TBX5
SNP : HGBaseTBX5
Genetic variants : HAPMAPTBX5
1000_GenomesTBX5 
ICGC programENSG00000089225 
Somatic Mutations in Cancer : COSMICTBX5 
CONAN: Copy Number AnalysisTBX5 
Mutations and Diseases : HGMDTBX5
OMIM142900    601620   
GENETestsTBX5
Disease Genetic AssociationTBX5
Huge Navigator TBX5 [HugePedia]  TBX5 [HugeCancerGEM]
Genomic VariantsTBX5  TBX5 [DGVbeta]
Exome VariantTBX5
dbVarTBX5
ClinVarTBX5
snp3D : Map Gene to Disease6910
General knowledge
Homologs : HomoloGeneTBX5
Homology/Alignments : Family Browser (UCSC)TBX5
Phylogenetic Trees/Animal Genes : TreeFamTBX5
Chemical/Protein Interactions : CTD6910
Chemical/Pharm GKB GenePA36367
Clinical trialTBX5
Cancer Resource (Charite)ENSG00000089225
Other databases
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
CoreMineTBX5
iHOPTBX5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Mar 31 09:31:58 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.