Human Gene TBX19 (ENST00000367821.8) from GENCODE V44
Description: Homo sapiens T-box transcription factor 19 (TBX19), mRNA. (from RefSeq NM_005149) RefSeq Summary (NM_005149): 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. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000367821.8 Gencode Gene: ENSG00000143178.13 Transcript (Including UTRs) Position: hg38 chr1:168,280,877-168,314,426 Size: 33,550 Total Exon Count: 8 Strand: + Coding Region Position: hg38 chr1:168,281,091-168,313,002 Size: 31,912 Coding Exon Count: 8
ID:TBX19_HUMAN DESCRIPTION: RecName: Full=T-box transcription factor TBX19; Short=T-box protein 19; AltName: Full=T-box factor, pituitary; FUNCTION: Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters. SUBCELLULAR LOCATION: Nucleus (Potential). DISEASE: Defects in TBX19 are a cause of ACTH deficiency isolated (IAD) [MIM:201400]. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low. SIMILARITY: Contains 1 T-box DNA-binding domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBX19";
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 O60806
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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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001158 enhancer sequence-specific DNA binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0009653 anatomical structure morphogenesis GO:0021983 pituitary gland development GO:0042127 regulation of cell proliferation GO:0045165 cell fate commitment GO:0045595 regulation of cell differentiation GO:0045944 positive regulation of transcription from RNA polymerase II promoter
US Server
Sequence and Links to Tools and Databases 
Microarray Expression Data 
