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Aliases for TBX19 Gene

Aliases for TBX19 Gene

  • T-Box 19 2 3
  • T-Box Factor, Pituitary 3 4
  • T-Box Protein 19 3 4
  • TBS 19 2 3
  • TPIT 3 4
  • T-Box Transcription Factor TBX19 3
  • DJ747L4.1 3
  • TBS19 3

External Ids for TBX19 Gene

Summaries for TBX19 Gene

Entrez Gene Summary for 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. Mutations in this gene 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. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]

GeneCards Summary for TBX19 Gene

TBX19 (T-Box 19) is a Protein Coding gene. Diseases associated with TBX19 include late-onset isolated acth deficiency and adrenocorticotropic hormone deficiency. Among its related pathways are Corticotropin-releasing hormone. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and enhancer sequence-specific DNA binding. An important paralog of this gene is TBX20.

UniProtKB/Swiss-Prot for TBX19 Gene

  • Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters.

Gene Wiki entry for TBX19 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBX19 Gene

Genomics for TBX19 Gene

Genomic Location for TBX19 Gene

Start:
168,281,040 bp from pter
End:
168,314,426 bp from pter
Size:
33,387 bases
Orientation:
Plus strand

Genomic View for TBX19 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBX19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBX19 Gene

Regulatory Elements for TBX19 Gene

Proteins for TBX19 Gene

  • Protein details for TBX19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60806-TBX19_HUMAN
    Recommended name:
    T-box transcription factor TBX19
    Protein Accession:
    O60806
    Secondary Accessions:
    • Q52M53

    Protein attributes for TBX19 Gene

    Size:
    448 amino acids
    Molecular mass:
    48238 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TBX19 Gene

Proteomics data for TBX19 Gene at MOPED

Post-translational modifications for TBX19 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX19 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBX19 Gene

Domains for TBX19 Gene

Gene Families for TBX19 Gene

HGNC:

UniProtKB/Swiss-Prot:

TBX19_HUMAN
Domain:
  • Contains 1 T-box DNA-binding domain.:
    • O60806
genes like me logo Genes that share domains with TBX19: view

Function for TBX19 Gene

Molecular function for TBX19 Gene

GENATLAS Biochemistry: murine T-box gene Tbx19 (T,brachyury) homolog,ortholog of chick TbxT
UniProtKB/Swiss-Prot Function: Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters.

Gene Ontology (GO) - Molecular Function for TBX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001158 enhancer sequence-specific DNA binding IEA --
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with TBX19: view
genes like me logo Genes that share phenotypes with TBX19: view

miRNA for TBX19 Gene

miRTarBase miRNAs that target TBX19

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TBX19 Gene

Localization for TBX19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX19 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBX19 Gene COMPARTMENTS Subcellular localization image for TBX19 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for TBX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with TBX19: view

Pathways for TBX19 Gene

genes like me logo Genes that share pathways with TBX19: view

Pathways by source for TBX19 Gene

1 BioSystems pathway for TBX19 Gene

Gene Ontology (GO) - Biological Process for TBX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 9888994
GO:0009653 anatomical structure morphogenesis TAS 9888994
GO:0021983 pituitary gland development IEA --
genes like me logo Genes that share ontologies with TBX19: view

Compounds for TBX19 Gene

(1) Novoseek inferred chemical compound relationships for TBX19 Gene

Compound -log(P) Hits PubMed IDs
acth 74.1 13
genes like me logo Genes that share compounds with TBX19: view

Transcripts for TBX19 Gene

Unigene Clusters for TBX19 Gene

T-box 19:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBX19 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - -
SP5:

Relevant External Links for TBX19 Gene

GeneLoc Exon Structure for
TBX19
ECgene alternative splicing isoforms for
TBX19

Expression for TBX19 Gene

mRNA expression in normal human tissues for TBX19 Gene

mRNA differential expression in normal tissues according to GTEx for TBX19 Gene

This gene is overexpressed in Pituitary (15.7).

SOURCE GeneReport for Unigene cluster for TBX19 Gene Hs.716656

genes like me logo Genes that share expressions with TBX19: view

Orthologs for TBX19 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBX19 36
  • 99.4 (n)
  • 99.78 (a)
TBX19 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBX19 36
  • 90.85 (n)
  • 92.19 (a)
TBX19 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBX19 36
  • 91.39 (n)
  • 93.9 (a)
TBX19 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbx19 36
  • 89.06 (n)
  • 92.58 (a)
Tbx19 16
Tbx19 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBX19 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBX19 37
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBX19 36
  • 74.85 (n)
  • 76.71 (a)
TBX19 37
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBX19 37
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100538180 36
  • 64.77 (n)
  • 64.94 (a)
tbx19 37
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta byn 37
  • 29 (a)
OneToMany
byn 38
  • 75 (a)
worm
(Caenorhabditis elegans)
Secernentea tbx-9 38
  • 42 (a)
tbx-8 38
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4353 37
  • 34 (a)
OneToMany
Species with no ortholog for TBX19:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TBX19 Gene

ENSEMBL:
Gene Tree for TBX19 (if available)
TreeFam:
Gene Tree for TBX19 (if available)

Paralogs for TBX19 Gene

Paralogs for TBX19 Gene

Selected SIMAP similar genes for TBX19 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TBX19: view

Variants for TBX19 Gene

Sequence variations from dbSNP and Humsavar for TBX19 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1000533 -- 168,313,253(+) TTAGG(C/T)GACAG utr-variant-3-prime
rs1003315 -- 168,313,481(+) CCATA(C/G)AGTAA utr-variant-3-prime
rs1003502 -- 168,285,782(-) ATTTT(C/T)TTCCC intron-variant
rs1003503 -- 168,285,454(-) TTGCA(A/G)GAAGA intron-variant
rs1080627 -- 168,304,512(-) atata(C/T)gcaac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBX19 Gene

Variant ID Type Subtype PubMed ID
nsv831825 CNV Gain+Loss 17160897

Relevant External Links for TBX19 Gene

HapMap Linkage Disequilibrium report
TBX19
Human Gene Mutation Database (HGMD)
TBX19

Disorders for TBX19 Gene

(1) OMIM Diseases for TBX19 Gene (604614)

UniProtKB/Swiss-Prot

TBX19_HUMAN
  • ACTH deficiency, isolated (IAD) [MIM:201400]: A disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low. {ECO:0000269 PubMed:11290323}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TBX19 Gene

(3) Novoseek inferred disease relationships for TBX19 Gene

Disease -log(P) Hits PubMed IDs
acth deficiency 89.7 6
pituitary adenoma 57.1 3
adenoma 52.4 4

Relevant External Links for TBX19

Genetic Association Database (GAD)
TBX19
Human Genome Epidemiology (HuGE) Navigator
TBX19
genes like me logo Genes that share disorders with TBX19: view

Publications for TBX19 Gene

  1. A pituitary cell-restricted T-box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. (PMID: 11290323) Lamolet B. … Drouin J. (Cell 2001) 3 4 23
  2. Identification, mapping and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19. (PMID: 9888994) Yi C.-H. … Brook J.D. (Genomics 1999) 2 3 4
  3. TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. (PMID: 15476446) Metherell L.A. … Clark A.J. (Eur. J. Endocrinol. 2004) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. (PMID: 12651888) Pulichino A.M. … Drouin J. (Genes Dev. 2003) 3 23

Products for TBX19 Gene

Sources for TBX19 Gene

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