TBX19

T-box transcription factor TBX19 is a protein that in humans is encoded by the TBX19 gene.[5]

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
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q24.2 Start 168,280,877 bp[1] End 168,314,426 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 H2.2|1 72.47 cM Start 165,137,855 bp[2] End 165,160,773 bp[2]
Gene ontology Molecular function • GO:0001158 core promoter proximal region sequence-specific DNA binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • DNA binding • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cell nucleus Biological process • transcription, DNA-templated • regulation of transcription from RNA polymerase II promoter • anatomical structure morphogenesis • pituitary gland development • regulation of cell proliferation • cell fate commitment • regulation of cell differentiation • positive regulation of transcription from RNA polymerase II promoter • regulation of transcription, DNA-templated • transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	9095	83993
Ensembl	ENSG00000143178	ENSMUSG00000026572
UniProt	O60806	Q99ME7
RefSeq (mRNA)	NM_005149	NM_032005
RefSeq (protein)	NP_005140	NP_114394
Location (UCSC)	Chr 1: 168.28 – 168.31 Mb	Chr 1: 165.14 – 165.16 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. [6]

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.[7]