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Aliases for TBX19 Gene

Aliases for TBX19 Gene

  • T-Box 19 2 3 5
  • T-Box Factor, Pituitary 3 4
  • T-Box Protein 19 3 4
  • TBS 19 2 3
  • TPIT 3 4
  • DJ747L4.1 3
  • TBS19 3

External Ids for TBX19 Gene

Previous GeneCards Identifiers for TBX19 Gene

  • GC01P165885
  • GC01P163846
  • GC01P164892
  • GC01P165437
  • GC01P164982
  • GC01P166461
  • GC01P166516
  • GC01P139494

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 adrenocorticotropic hormone deficiency and acth deficiency. Among its related pathways are Corticotropin-releasing hormone. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Regulatory Elements for TBX19 Gene

Enhancers for TBX19 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TBX19 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBX19 Gene

Chromosome:
1
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

Genes around TBX19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBX19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBX19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for TBX19 Gene

Gene Families for TBX19 Gene

Suggested Antigen Peptide Sequences for TBX19 Gene

Graphical View of Domain Structure for InterPro Entry

O60806

UniProtKB/Swiss-Prot:

TBX19_HUMAN :
  • Contains 1 T-box DNA-binding domain.
Domain:
  • Contains 1 T-box DNA-binding domain.
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:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with TBX19: view
genes like me logo Genes that share phenotypes with TBX19: view

Human Phenotype Ontology for TBX19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBX19 Gene

MGI Knock Outs for TBX19:

Animal Model Products

miRNA for TBX19 Gene

miRTarBase miRNAs that target TBX19

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for TBX19 Gene

Pathways & Interactions 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:0006355 regulation of transcription, DNA-templated IEA --
GO:0009653 anatomical structure morphogenesis TAS 9888994
GO:0021983 pituitary gland development IEA --
GO:0042127 regulation of cell proliferation IEA --
GO:0045165 cell fate commitment IEA --
genes like me logo Genes that share ontologies with TBX19: view

No data available for SIGNOR curated interactions for TBX19 Gene

Drugs & Compounds for TBX19 Gene

(1) Drugs for TBX19 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Pituitary (x15.7).

SOURCE GeneReport for Unigene cluster for TBX19 Gene Hs.716656

genes like me logo Genes that share expression patterns with TBX19: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for TBX19 Gene

Orthologs for TBX19 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX19 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TBX19 35
  • 90.85 (n)
  • 92.19 (a)
TBX19 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBX19 35
  • 91.39 (n)
  • 93.9 (a)
TBX19 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbx19 35
  • 89.06 (n)
  • 92.58 (a)
Tbx19 16
Tbx19 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TBX19 35
  • 99.4 (n)
  • 99.78 (a)
TBX19 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBX19 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBX19 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBX19 35
  • 74.85 (n)
  • 76.71 (a)
TBX19 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBX19 36
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100538180 35
  • 64.77 (n)
  • 64.94 (a)
tbx19 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta byn 37
  • 75 (a)
byn 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbx-8 37
  • 41 (a)
tbx-9 37
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4353 36
  • 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

(6) 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
VAR_018387 ACTH deficiency, isolated (IAD)
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

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

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

Variation tolerance for TBX19 Gene

Residual Variation Intolerance Score: 37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBX19 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX19 Gene

Disorders for TBX19 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TBX19 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adrenocorticotropic hormone deficiency
  • isolated acth deficiency
acth deficiency
  • adrenocorticotropic hormone deficiency
late-onset isolated acth deficiency
lymphocytic hypophysitis
  • autoimmune hypophysitis
congenital syphilis
  • syphilis congenital
- elite association - COSMIC cancer census association via MalaCards
Search TBX19 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for TBX19

Genetic Association Database (GAD)
TBX19
Human Genome Epidemiology (HuGE) Navigator
TBX19
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBX19
genes like me logo Genes that share disorders with TBX19: view

No data available for Genatlas for TBX19 Gene

Publications for TBX19 Gene

  1. 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 67
  2. Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene. (PMID: 16390921) Weintrob N. … Shohat M. (Pediatrics 2006) 3 23
  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. Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. (PMID: 12651888) Pulichino A.M. … Drouin J. (Genes Dev. 2003) 3 23
  5. Tpit determines alternate fates during pituitary cell differentiation. (PMID: 12651892) Pulichino A.M. … Drouin J. (Genes Dev. 2003) 3 23

Products for TBX19 Gene

Sources for TBX19 Gene

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