TBX19

TBX19
Identifiers
Aliases	TBX19, TBS19, TPIT, dJ747L4.1, T-box 19
External IDs	OMIM: 604614 MGI: 1891158 HomoloGene: 3779 GeneCards: TBX19
Gene ontology Molecular function • enhancer sequence-specific DNA binding • transcription factor activity, sequence-specific DNA binding • DNA binding Cellular component • 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 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_005140.1	NP_114394.1
Location (UCSC)	Chr 1: 168.28 – 168.31 Mb	Chr 1: 165.14 – 165.16 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

View/Edit Mouse

T-box transcription factor TBX19 is a protein that in humans is encoded by the TBX19 gene.^[3]

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. ^[4]

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.^[5]

See also

• Adrenocorticotropic hormone deficiency

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. Yi CH, Terrett JA, Li QY, Ellington K, Packham EA, Armstrong-Buisseret L, McClure P, Slingsby T, Brook JD (Mar 1999). "Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19". Genomics. 55 (1): 10–20. doi:10.1006/geno.1998.5632. PMID 9888994.
4. Williams textbook of endocrinology
5. "Entrez Gene: TBX19 T-box 19".

Further reading

• Asteria C (2002). "T-box and isolated ACTH deficiency.". Eur. J. Endocrinol. 146 (4): 463–5. doi:10.1530/eje.0.1460463. PMID 11916612.

External links

• TBX19 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)