TBX19

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

TBX19
Identifiers
AliasesTBX19, TBS19, TPIT, dJ747L4.1, T-box 19, T-box transcription factor 19
External IDsOMIM: 604614 MGI: 1891158 HomoloGene: 3779 GeneCards: TBX19
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q24.2Start168,280,877 bp[1]
End168,314,426 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 1: 165.14 – 165.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000143178 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000026572 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. Williams textbook of endocrinology
  7. "Entrez Gene: TBX19 T-box 19".

Further reading

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