TBX19

TBX19
Identifiers
Aliases	TBX19, TBS19, TPIT, dJ747L4.1, T-box 19, T-box transcription factor 19
External IDs	OMIM: 604614; MGI: 1891158; HomoloGene: 3779; GeneCards: TBX19; OMA:TBX19 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	168,314,426 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	164,988,342 bp
RNA expression pattern
	Top expressed in
	anterior pituitary; ; body of uterus; ; testicle; ; ascending aorta; ; granulocyte; ; Descending thoracic aorta; ; right ovary; ; left ovary; ; right lung; ; tibial arteries;
	Top expressed in
	zygote; ; secondary oocyte; ; urethra; ; pituitary gland; ; female urethra; ; male urethra; ; gastrula; ; lumbar subsegment of spinal cord; ; primary oocyte; ; embryo;
	More reference expression data
	n/a
Gene ontology
Molecular function	cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity; DNA binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleus;
Biological process	transcription, DNA-templated; regulation of transcription by RNA polymerase II; anatomical structure morphogenesis; pituitary gland development; regulation of cell population proliferation; cell fate commitment; regulation of cell differentiation; positive regulation of transcription by RNA polymerase II; regulation of transcription, DNA-templated; transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	9095
	83993
	ENSG00000143178
	ENSMUSG00000026572
	O60806
	Q99ME7
	NM_005149
	NM_032005
	NP_005140
	NP_114394
	Wikidata
View/Edit Human	View/Edit Mouse

T-box transcription factor TBX19 is a protein that in humans is encoded by the TBX19 gene.

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. This gene is the human ortholog of mouse Tbx19/Tpit gene. Studies in mouse show that Tpit protein is present only in the two pituitary pro-opiomelanocortin (POMC)-expressing lineages, the corticotrophs and melanotrophs.

The Tpit gene is responsible for a neonatal form of acth deficiency and hypocortisolism.

Mutations in the human ortholog 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.