| Nomenclature |
|---|
| HGNC (Hugo) | TBX5 11604 |
| LRG (Locus Reference Genomic) | LRG_670 |
| Cards |
|---|
| Entrez_Gene (NCBI) | TBX5 6910 T-box transcription factor 5 |
| Aliases | HOS |
| 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 DataPortal | ENSG00000089225 |
| TCGA cBioPortal | TBX5 |
| AceView (NCBI) | TBX5 |
| Genatlas (Paris) | TBX5 |
| WikiGenes | 6910 |
| 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) |
| GoldenPath | TBX5 - 12q24.21 [CytoView hg19] TBX5 - 12q24.21 [CytoView hg38] |
| Genome Data Viewer NCBI | TBX5 [Mapview hg19] |
| OMIM | 142900 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) | |
| Consensus coding sequences : CCDS (NCBI) | TBX5 |
| Alternative Splicing Gallery | ENSG00000089225 |
| Gene Expression | TBX5 [ NCBI-GEO ] TBX5 [ EBI - ARRAY_EXPRESS ]
TBX5 [ SEEK ] TBX5 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | TBX5 [ Firebrowse - Broad ] |
| Genevisible | Expression of TBX5 in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 6910 |
| GTEX Portal (Tissue expression) | TBX5 |
| Human Protein Atlas | ENSG00000089225-TBX5 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | Q99593 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | Q99593 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | Q99593 |
| Splice isoforms : SwissVar | Q99593 |
| PhosPhoSitePlus | Q99593 |
| 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 |
| DMDM Disease mutations | 6910 |
| PDB (RSDB) | 2X6U 2X6V 4S0H 5BQD |
| PDB Europe | 2X6U 2X6V 4S0H 5BQD |
| PDB (PDBSum) | 2X6U 2X6V 4S0H 5BQD |
| PDB (IMB) | 2X6U 2X6V 4S0H 5BQD |
| Structural Biology KnowledgeBase | 2X6U 2X6V 4S0H 5BQD |
| SCOP (Structural Classification of Proteins) | 2X6U 2X6V 4S0H 5BQD |
| CATH (Classification of proteins structures) | 2X6U 2X6V 4S0H 5BQD |
| Superfamily | Q99593 |
| Human Protein Atlas [tissue] | ENSG00000089225-TBX5 [tissue] |
| Peptide Atlas | Q99593 |
| HPRD | 03372 |
| IPI | IPI00218492 IPI00216449 IPI00910348 IPI00335687 IPI00082832 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | Q99593 |
| IntAct (EBI) | Q99593 |
| FunCoup | ENSG00000089225 |
| BioGRID | TBX5 |
| STRING (EMBL) | TBX5 |
| ZODIAC | TBX5 |
| Ontologies - Pathways |
|---|
| QuickGO | Q99593 |
| Ontology : AmiGO | negative regulation of transcription by RNA polymerase II nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II proximal promoter 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 RNA polymerase II activating transcription factor binding DNA-binding transcription activator activity, RNA polymerase II-specific cell fate specification morphogenesis of an epithelium bundle of His development 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 nucleus nucleoplasm cytoplasm 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 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 cardiac muscle cell differentiation pericardium development negative regulation of cardiac muscle cell proliferation positive regulation of cardiac muscle cell proliferation atrial septum morphogenesis cell migration involved in coronary vasculogenesis positive regulation of secondary heart field cardioblast proliferation |
| Ontology : EGO-EBI | negative regulation of transcription by RNA polymerase II nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II proximal promoter 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 RNA polymerase II activating transcription factor binding DNA-binding transcription activator activity, RNA polymerase II-specific cell fate specification morphogenesis of an epithelium bundle of His development 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 nucleus nucleoplasm cytoplasm 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 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 cardiac muscle cell differentiation pericardium development negative regulation of cardiac muscle cell proliferation positive regulation of cardiac muscle cell proliferation atrial septum morphogenesis cell migration involved in coronary vasculogenesis positive regulation of secondary heart field cardioblast proliferation |
| NDEx Network | TBX5 |
| Atlas of Cancer Signalling Network | TBX5 |
| Wikipedia pathways | TBX5 |
| Orthology - Evolution |
|---|
| OrthoDB | 6910 |
| GeneTree (enSembl) | ENSG00000089225 |
| Phylogenetic Trees/Animal Genes : TreeFam | TBX5 |
| HOGENOM | Q99593 |
| Homologs : HomoloGene | TBX5 |
| Homology/Alignments : Family Browser (UCSC) | TBX5 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | NAA25/TBX5 [12q24.13/12q24.21] |
| Fusion Portal | NAA25 12q24.13 TBX5 12q24.21 BRCA |
| Fusion : Quiver | TBX5 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | TBX5 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | TBX5 |
| dbVar | TBX5 |
| ClinVar | TBX5 |
| 1000_Genomes | TBX5 |
| Exome Variant Server | TBX5 |
| GNOMAD Browser | ENSG00000089225 |
| Varsome Browser | TBX5 |
| Genetic variants : HAPMAP | 6910 |
| Genomic Variants (DGV) | TBX5 [DGVbeta] |
| DECIPHER | TBX5 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | TBX5 |
| Mutations |
|---|
| ICGC Data Portal | TBX5 |
| TCGA Data Portal | TBX5 |
| Broad Tumor Portal | TBX5 |
| OASIS Portal | TBX5 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | TBX5 [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | TBX5 |
| Mutations and Diseases : HGMD | TBX5 |
| 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 |
| BioMuta | select TBX5 |
| DgiDB (Drug Gene Interaction Database) | TBX5 |
| DoCM (Curated mutations) | TBX5 (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | TBX5 (select a term) |
| intoGen | TBX5 |
| Cancer3D | TBX5 (select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 142900 601620 |
| Orphanet | 1023 |
| DisGeNET | TBX5 |
| Medgen | TBX5 |
| Genetic Testing Registry | TBX5
|
| NextProt | Q99593 [Medical] |
| TSGene | 6910 |
| GENETests | TBX5 |
| Open Targets Genetics | ENSG00000089225 [validation] |
| snp3D : Map Gene to Disease | 6910 |
| BioCentury BCIQ | TBX5 |
| ClinGen | TBX5 (curated) |
| Clinical trials, drugs, therapy |
|---|
| Protein Interactions : CTD | 6910 |
| Pharm GKB Gene | PA36367 |
| Clinical trial | TBX5 |
| Miscellaneous |
|---|
| canSAR (ICR) | TBX5 (select the gene name) |
| Harmonizome | TBX5 |
| DataMed Index | TBX5 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 129 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | TBX5 |
| EVEX | TBX5 |
