| Nomenclature | | HGNC (Hugo) | TBX1 11592 |
| Cards | | Entrez_Gene (NCBI) | TBX1 6899 T-box 1 |
| GeneCards (Weizmann) | TBX1 |
| Ensembl (Hinxton) | ENSG00000184058 [Gene_View] chr22:19744226-19771112 [Contig_View] TBX1 [Vega] |
| AceView (NCBI) | TBX1 |
| Genatlas (Paris) | TBX1 |
| WikiGenes | 6899 |
| SOURCE (Princeton) | NM_005992 NM_080646 NM_080647 |
| Genomic and cartography | | GoldenPath (UCSC) | TBX1 - 22q11.21 chr22:19744226-19771112 + 22q11.21 [Description] (hg19-Feb_2009) |
| Ensembl | TBX1 - 22q11.21 [CytoView] |
| Mapping of homologs : NCBI | TBX1 [Mapview] |
| OMIM | 187500 188400 192430 217095 602054 |
| Gene and transcription |
| Genbank (Entrez) | AF012130 AF012131 AF373867 GU014843 |
| RefSeq transcript (Entrez) | NM_005992 NM_080646 NM_080647 |
| RefSeq genomic (Entrez) | AC_000154 NC_000022 NC_018933 NG_009229 NT_011519 NW_001838737 NW_004929429 |
| Consensus coding sequences : CCDS (NCBI) | TBX1 |
| Cluster EST : Unigene | Hs.173984 [ NCBI ] |
| CGAP (NCI) | Hs.173984 |
| Alternative Splicing : Fast-db (Paris) | GSHG0019833 |
| Alternative Splicing Gallery | ENSG00000184058 |
| Gene Expression | TBX1 [ NCBI-GEO ] TBX1 [ SEEK ] TBX1 [ MEM ] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | O43435 (Uniprot) |
| NextProt | O43435 [Medical] |
| With graphics : InterPro | O43435 |
| Splice isoforms : SwissVar | O43435 (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 : CluSTr | O43435 |
| Domain families : Pfam (Sanger) | T-box (PF00907) |
| Domain families : Pfam (NCBI) | pfam00907 |
| Domain families : Smart (EMBL) | TBOX (SM00425) |
| DMDM Disease mutations | 6899 |
| Blocks (Seattle) | O43435 |
| PDB (SRS) | 4A04 |
| PDB (PDBSum) | 4A04 |
| PDB (IMB) | 4A04 |
| PDB (RSDB) | 4A04 |
| Human Protein Atlas | ENSG00000184058 |
| Peptide Atlas | O43435 |
| HPRD | 09069 |
| IPI | IPI00395723 IPI00411964 IPI00045335 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | O43435 |
| IntAct (EBI) | O43435 |
| FunCoup | ENSG00000184058 |
| BioGRID | TBX1 |
| InParanoid | O43435 |
| Interologous Interaction database | O43435 |
| IntegromeDB | TBX1 |
| STRING (EMBL) | TBX1 |
| Ontologies - Pathways | | Ontology : AmiGO | angiogenesis blood vessel development cell fate specification neural crest cell migration positive regulation of protein phosphorylation lymph vessel development blood vessel remodeling positive regulation of mesenchymal cell proliferation heart morphogenesis outflow tract septum morphogenesis outflow tract morphogenesis DNA binding sequence-specific DNA binding transcription factor activity nucleus transcription, DNA-templated regulation of transcription from RNA polymerase II promoter regulation of transcription from RNA polymerase II promoter determination of left/right symmetry pattern specification process mesoderm development heart development muscle organ development sensory perception of sound cell proliferation positive regulation of cell proliferation anterior/posterior pattern specification vagus nerve morphogenesis epithelial cell differentiation thyroid gland development social behavior aorta morphogenesis ear morphogenesis inner ear morphogenesis outer ear morphogenesis middle ear morphogenesis odontogenesis of dentin-containing tooth muscle cell fate commitment protein homodimerization activity positive regulation of MAPK cascade sequence-specific DNA binding tongue morphogenesis cellular response to fibroblast growth factor stimulus negative regulation of cell differentiation positive regulation of transcription, DNA-dependent positive regulation of transcription, DNA-dependent positive regulation of transcription from RNA polymerase II promoter protein dimerization activity retinoic acid receptor signaling pathway blood vessel morphogenesis thymus development muscle organ morphogenesis embryonic cranial skeleton morphogenesis embryonic viscerocranium morphogenesis semicircular canal morphogenesis artery morphogenesis positive regulation of epithelial cell proliferation parathyroid gland development soft palate development pharyngeal system development face morphogenesis muscle tissue morphogenesis coronary artery morphogenesis enamel mineralization cellular response to retinoic acid otic vesicle morphogenesis positive regulation of secondary heart field cardioblast proliferation cochlea morphogenesis mesenchymal cell apoptotic process regulation of organ morphogenesis positive regulation of tongue muscle cell differentiation negative regulation of mesenchymal cell apoptotic process |
| Ontology : EGO-EBI | angiogenesis blood vessel development cell fate specification neural crest cell migration positive regulation of protein phosphorylation lymph vessel development blood vessel remodeling positive regulation of mesenchymal cell proliferation heart morphogenesis outflow tract septum morphogenesis outflow tract morphogenesis DNA binding sequence-specific DNA binding transcription factor activity nucleus transcription, DNA-templated regulation of transcription from RNA polymerase II promoter regulation of transcription from RNA polymerase II promoter determination of left/right symmetry pattern specification process mesoderm development heart development muscle organ development sensory perception of sound cell proliferation positive regulation of cell proliferation anterior/posterior pattern specification vagus nerve morphogenesis epithelial cell differentiation thyroid gland development social behavior aorta morphogenesis ear morphogenesis inner ear morphogenesis outer ear morphogenesis middle ear morphogenesis odontogenesis of dentin-containing tooth muscle cell fate commitment protein homodimerization activity positive regulation of MAPK cascade sequence-specific DNA binding tongue morphogenesis cellular response to fibroblast growth factor stimulus negative regulation of cell differentiation positive regulation of transcription, DNA-dependent positive regulation of transcription, DNA-dependent positive regulation of transcription from RNA polymerase II promoter protein dimerization activity retinoic acid receptor signaling pathway blood vessel morphogenesis thymus development muscle organ morphogenesis embryonic cranial skeleton morphogenesis embryonic viscerocranium morphogenesis semicircular canal morphogenesis artery morphogenesis positive regulation of epithelial cell proliferation parathyroid gland development soft palate development pharyngeal system development face morphogenesis muscle tissue morphogenesis coronary artery morphogenesis enamel mineralization cellular response to retinoic acid otic vesicle morphogenesis positive regulation of secondary heart field cardioblast proliferation cochlea morphogenesis mesenchymal cell apoptotic process regulation of organ morphogenesis positive regulation of tongue muscle cell differentiation negative regulation of mesenchymal cell apoptotic process |
| REACTOME | TBX1 |
| Protein Interaction Database | TBX1 |
| Wikipedia pathways | TBX1 |
| Gene fusion - rearrangments | | Polymorphisms : SNP, mutations, diseases | | SNP Single Nucleotide Polymorphism (NCBI) | TBX1 |
| SNP (GeneSNP Utah) | TBX1 |
| SNP : HGBase | TBX1 |
| Genetic variants : HAPMAP | TBX1 |
| 1000_Genomes | TBX1 |
| ICGC program | ENSG00000184058 |
| Somatic Mutations in Cancer : COSMIC | TBX1 |
| CONAN: Copy Number Analysis | TBX1 |
| Mutations and Diseases : HGMD | TBX1 |
| OMIM | 187500 188400 192430 217095 602054 |
| GENETests | TBX1 |
| Disease Genetic Association | TBX1 |
| Huge Navigator |
TBX1 [HugePedia] TBX1 [HugeCancerGEM] |
| Genomic Variants | TBX1 TBX1 [DGVbeta] |
| Exome Variant | TBX1 |
| dbVar | TBX1 |
| ClinVar | TBX1 |
| snp3D : Map Gene to Disease | 6899 |
| General knowledge |
|---|
| Homologs : HomoloGene | TBX1 |
| Homology/Alignments : Family Browser (UCSC) | TBX1 |
| Phylogenetic Trees/Animal Genes : TreeFam | TBX1 |
| Chemical/Protein Interactions : CTD | 6899 |
| Chemical/Pharm GKB Gene | PA36355 |
| Clinical trial | TBX1 |
| Cancer Resource (Charite) | ENSG00000184058 |
| Other databases | | Probes |
|---|
| Litterature | | PubMed | 38 Pubmed reference(s) in Entrez |
| CoreMine | TBX1 |
| iHOP | TBX1 |
