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 differentiatio... See more...

Aliases for TBX19 Gene

Aliases for TBX19 Gene

  • T-Box Transcription Factor 19 2 3 5
  • TPIT 2 3 4
  • T-Box Transcription Factor TBX19 3 4
  • T-Box Factor, Pituitary 3 4
  • T-Box Protein 19 3 4
  • T-Box 19 2 3
  • TBS 19 2 3
  • DJ747L4.1 3
  • Dj747L4.1 2
  • TBS19 3
  • TBX19 5

External Ids for TBX19 Gene

Previous GeneCards Identifiers for TBX19 Gene

  • GC01P165885
  • GC01P163846
  • GC01P164892
  • GC01P165437
  • GC01P164982
  • GC01P166461
  • GC01P166516
  • GC01P168250
  • 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 Transcription Factor 19) is a Protein Coding gene. Diseases associated with TBX19 include Acth Deficiency, Isolated and Late-Onset Isolated Acth Deficiency. Among its related pathways are Corticotropin-releasing hormone signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and enhancer sequence-specific DNA binding. An important paralog of this gene is TBXT.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBX19 Gene

Genomics for TBX19 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBX19 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J168225 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 617.5 -53.8 -53776 4.6 RNF2 GATAD2A HNRNPL PRDM10 NFKBIZ KDM1A ZNF692 POLR2A BACH1 JUND TBX19 NONHSAG003392.2 SFT2D2 lnc-GPR161-2 RNU6-1310P TIPRL MPZL1 piR-31871
GH01J168242 Enhancer 0.8 Ensembl ENCODE 19 -37.4 -37404 1.3 ZIC2 HDAC1 EP300 ZNF766 SMARCC1 CTBP1 RUNX3 ESR1 CEBPB NR2C2 TBX19 piR-31871 NONHSAG003392.2 SFT2D2
GH01J168320 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.9 +39.6 39624 2.6 PRDM10 JUND MTA1 SP1 DPF2 HDAC1 SOX6 FOXJ2 EP300 CTCF TBX19 ENSG00000227722 lnc-TBX19-1 piR-33432-031 XCL2
GH01J168300 Enhancer 0.9 Ensembl ENCODE 11.5 +21.0 20967 2.7 PRDM10 RFX1 NR2C1 CEBPA CEBPB SP1 SMARCC2 BRCA1 NR3C1 FOS TBX19 MIR557 SFT2D2 RF01045-011 XCL2
GH01J168443 Enhancer 1 Ensembl ENCODE 9.5 +164.2 164224 4.2 ZNF512 IKZF1 JUND MTA2 PKNOX1 MTA1 ZNF24 DPF2 HDAC1 SOX6 ATP1B1 MIR557 LOC101928596 TBX19 QRSL1P1 ENSG00000283255 ENSG00000228697 XCL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBX19 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBX19

Top Transcription factor binding sites by QIAGEN in the TBX19 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1C
  • GR
  • GR-alpha
  • Nkx2-5
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for TBX19 Gene

Genomic Locations for TBX19 Gene
chr1:168,280,877-168,314,426
(GRCh38/hg38)
Size:
33,550 bases
Orientation:
Plus strand
chr1:168,250,278-168,283,664
(GRCh37/hg19)
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

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TBX19 Gene

InterPro:
Blocks:
  • Transcription factor, T-box
  • Brachyury protein family signature
ProtoNet:

Suggested Antigen Peptide Sequences for TBX19 Gene

GenScript: Design optimal peptide antigens:
  • T-box 19 (Q5TIH6_HUMAN)
  • T-box 19 (Q5TIH7_HUMAN)
  • T-box factor, pituitary (TBX19_HUMAN)
genes like me logo Genes that share domains with TBX19: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TBX19 Gene

Function for TBX19 Gene

Molecular function for TBX19 Gene

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.
GENATLAS Biochemistry:
murine T-box gene Tbx19 (T,brachyury) homolog,ortholog of chick TbxT

Phenotypes From GWAS Catalog for TBX19 Gene

Gene Ontology (GO) - Molecular Function for TBX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0000987 proximal promoter sequence-specific DNA binding IEA --
GO:0001102 RNA polymerase II activating transcription factor binding IBA 21873635
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

CRISPR Products

miRNA for TBX19 Gene

miRTarBase miRNAs that target TBX19

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBX19 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,IBA 21873635
genes like me logo Genes that share ontologies with TBX19: view

Pathways & Interactions for TBX19 Gene

PathCards logo

SuperPathways 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:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0001707 mesoderm formation IBA 21873635
GO:0001708 cell fate specification IBA 21873635
GO:0001756 somitogenesis IBA 21873635
GO:0003007 heart morphogenesis IBA 21873635
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

mRNA/cDNA for TBX19 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBX19

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

Expression for TBX19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBX19

SOURCE GeneReport for Unigene cluster for TBX19 Gene:

Hs.716656

Evidence on tissue expression from TISSUES for TBX19 Gene

  • Nervous system(2.9)
  • Adrenal gland(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBX19 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • adrenal gland
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with TBX19: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
Chimpanzee
(Pan troglodytes)
Mammalia TBX19 30 31
  • 99.4 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TBX19 30 31
  • 91.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TBX19 30 31
  • 90.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tbx19 30 17 31
  • 89.06 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TBX19 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TBX19 31
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TBX19 30 31
  • 74.85 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TBX19 31
  • 69 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LOC100538180 30
  • 64.77 (n)
tbx19 31
  • 60 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta byn 31 32
  • 29 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tbx-9 32
  • 42 (a)
tbx-8 32
  • 41 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4353 31
  • 34 (a)
OneToMany
Species where no ortholog for TBX19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TBX19: view image

Paralogs for TBX19 Gene

(6) SIMAP similar genes for TBX19 Gene using alignment to 3 proteins:

  • TBX19_HUMAN
  • H0Y4B1_HUMAN
  • H0Y5A7_HUMAN
genes like me logo Genes that share paralogs with TBX19: view

Variants for TBX19 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBX19 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
710912 Benign: not provided 168,291,418(+) C/T SYNONYMOUS_VARIANT
720339 Benign: Adrenocorticotropic hormone deficiency; not provided 168,312,777(+) C/T SYNONYMOUS_VARIANT
739745 Benign: not provided 168,281,168(+) G/A SYNONYMOUS_VARIANT
759906 Likely Benign: not provided 168,312,744(+) C/T SYNONYMOUS_VARIANT
828147 Uncertain Significance: Adrenocorticotropic hormone deficiency 168,291,333(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TBX19 Gene

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

Variant ID Type Subtype PubMed ID
nsv1002007 CNV gain 25217958
nsv1078878 OTHER inversion 25765185
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)

Additional Variant Information for TBX19 Gene

Human Gene Mutation Database (HGMD)
TBX19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBX19

SNP Genotyping and Copy Number Assay Products

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

Disorders for TBX19 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TBX19 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
acth deficiency, isolated
  • iad
late-onset isolated acth deficiency
acth-secreting pituitary adenoma
  • pituitary-dependent cushing's disease
hypopituitarism
  • pituitary hormone deficiency
lymphocytic hypophysitis
  • autoimmune hypophysitis
- 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]: An autosomal recessive 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.

Additional Disease Information for TBX19

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

No data available for Genatlas for TBX19 Gene

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 CH … Brook JD (Genomics 1999) 2 3 4
  3. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 41
  4. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PMID: 19064610) Cheung CL … Kung AW (Human molecular genetics 2009) 3 41
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

Products for TBX19 Gene

Sources for TBX19 Gene