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
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 164,965,424 bp[2] End 164,988,342 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in anterior pituitary ascending aorta right lung canal of the cervix right coronary artery gastric mucosa monocyte skin of abdomen left coronary artery spleen Top expressed in secondary oocyte urethra pituitary gland female urethra male urethra submandibular gland anterior pituitary seminiferous tubule thymus mucosa of small intestine More reference expression data BioGPS 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 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: 164.97 – 164.99 Mb PubMed search [3] [4]
Wikidata
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T-box transcription factor TBX19 is a protein that in humans is encoded by the TBX19 gene.^[5]

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]

See also

• Adrenocorticotropic hormone deficiency

References

Further reading

External links

• TBX19+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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