Human Gene TBX6 (ENST00000395224.7) from GENCODE V44
Description: Homo sapiens T-box transcription factor 6 (TBX6), mRNA. (from RefSeq NM_004608) RefSeq Summary (NM_004608): This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]. Gencode Transcript: ENST00000395224.7 Gencode Gene: ENSG00000149922.12 Transcript (Including UTRs) Position: hg38 chr16:30,085,793-30,091,924 Size: 6,132 Total Exon Count: 9 Strand: - Coding Region Position: hg38 chr16:30,086,225-30,091,193 Size: 4,969 Coding Exon Count: 8
ID:TBX6_HUMAN DESCRIPTION: RecName: Full=T-box transcription factor TBX6; Short=T-box protein 6; FUNCTION: T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity). SUBUNIT: Forms a dimeric complex with DNA (in vitro). SUBCELLULAR LOCATION: Nucleus (Potential). TISSUE SPECIFICITY: Expressed in fetal tail bud, posterior spinal tissue, intervertebral disk and testis. Also expressed in adult testis, kidney, lung, muscle and thymus. DEVELOPMENTAL STAGE: Expressed during gastrulation and during a second phase in some adult tissues. SIMILARITY: Contains 1 T-box DNA-binding domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95947
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001085 RNA polymerase II transcription factor binding GO:0001102 RNA polymerase II activating transcription factor binding GO:0001191 transcriptional repressor activity, RNA polymerase II transcription factor binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001707 mesoderm formation GO:0001708 cell fate specification GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007275 multicellular organism development GO:0007498 mesoderm development GO:0009653 anatomical structure morphogenesis GO:0010977 negative regulation of neuron projection development GO:0014043 negative regulation of neuron maturation GO:0023019 signal transduction involved in regulation of gene expression GO:0032525 somite rostral/caudal axis specification GO:0045944 positive regulation of transcription from RNA polymerase II promoter