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TBX19 Gene

protein-coding   GIFtS: 56
GCID: GC01P168250

T-Box 19

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
T-Box 191 2     T-Box Protein 192 3
TBS 191 2     TBS192
TPIT2 3     dJ747L4.12
T-Box Factor, Pituitary2 3     T-Box Transcription Factor TBX192

External Ids:    HGNC: 115961   Entrez Gene: 90952   Ensembl: ENSG000001431787   OMIM: 6046145   UniProtKB: O608063   

Export aliases for TBX19 gene to outside databases

Previous GC identifers: GC01P165885 GC01P163846 GC01P164892 GC01P165437 GC01P164982 GC01P166461 GC01P166516 GC01P139494


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include enhancer sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TBX1.

UniProtKB/Swiss-Prot: TBX19_HUMAN, O60806
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 Wiki entry for TBX19 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the TBX19 gene promoter:
         GR   Nkx2-5   CBF-C   PPAR-gamma1   CBF-B   CBF-A   CP1C   GR-alpha   PPAR-gamma2   CBF(2)   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TBX19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBX19


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q24.2   Ensembl cytogenetic band:  1q24.2   HGNC cytogenetic band: 1q23-q24

TBX19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBX19 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P168250:  view genomic region     (about GC identifiers)

Start:
168,250,278 bp from pter      End:
168,283,664 bp from pter
Size:
33,387 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TBX19_HUMAN, O60806 (See protein sequence)
Recommended Name: T-box transcription factor TBX19  
Size: 448 amino acids; 48238 Da
Secondary accessions: Q52M53

Explore the universe of human proteins at neXtProt for TBX19: NX_O60806

Explore proteomics data for TBX19 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TBX19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005140.1  
    ENSEMBL proteins: 
     ENSP00000356795   ENSP00000397540   ENSP00000390731  

    TBX19 Human Recombinant Protein Products:

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    OriGene Purified Protein for TBX19
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    Novus Biologicals TBX19 Lysate
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    Cloud-Clone Corp. Proteins for TBX19

    TBX19 Antibody Products:

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    Abcam antibodies for TBX19
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    ThermoFisher Antibodies for TBX19
    LSBio Antibodies in human, mouse, rat for TBX19

    TBX19 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for TBX19
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TBX19
    Cloud-Clone Corp. CLIAs for TBX19


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TBX: T-boxes

    4 InterPro protein domains:
     IPR001699 TF_T-box
     IPR008967 p53-like_TF_DNA-bd
     IPR002070 TF_Brachyury
     IPR018186 TF_T-box_CS

    Graphical View of Domain Structure for InterPro Entry O60806

    ProtoNet protein and cluster: O60806

    2 Blocks protein domains:
    IPB001699 Transcription factor
    IPB002070 Brachyury protein family signature


    UniProtKB/Swiss-Prot: TBX19_HUMAN, O60806
    Similarity: Contains 1 T-box DNA-binding domain


    TBX19 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBX19_HUMAN, O60806
    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 entry for TBX19:
    murine T-box gene Tbx19 (T,brachyury) homolog,ortholog of chick TbxT

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001158enhancer sequence-specific DNA binding IEA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
         
    TBX19 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tbx19):
     endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  integument  nervous system 
     pigmentation  reproductive system 

    TBX19 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TBX19
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TBX19

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBX19
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBX19

    miRNA
    Products:
        
    miRTarBase miRNAs that target TBX19:
    hsa-mir-335-5p (MIRT017792), hsa-mir-375 (MIRT019806), hsa-mir-122-5p (MIRT003092)

    Block miRNA regulation of human, mouse, rat TBX19 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate TBX19:
    hsa-miR-4303 hsa-miR-513a-5p hsa-miR-522 hsa-miR-4306 hsa-miR-224* hsa-miR-185 hsa-miR-552 hsa-miR-3670
    SwitchGear 3'UTR luciferase reporter plasmidTBX19 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TBX19
    Predesigned siRNA for gene silencing in human, mouse, rat TBX19

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for TBX19

    Clone
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    OriGene clones in human, mouse for TBX19 (see all 6)
    OriGene ORF clones in mouse, rat for TBX19
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBX19 (NM_005149)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX19
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX19

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TBX19
    Browse ESI BIO Cell Lines and PureStem Progenitors for TBX19 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX19


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TBX19_HUMAN, O60806: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    TBX19 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TBX19 About    
    See pathways by source

    SuperPathContained pathways About
    1Corticotropin-releasing hormone
    Corticotropin-releasing hormone


    1 BioSystems Pathway for TBX19
        Corticotropin-releasing hormone


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBX19
    Interactions:

        GeneGlobe Interaction Network for TBX19

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for TBX19 (O608063 ENSP000003567954) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NR5A1Q132853, ENSP000003626904I2D: score=3 STRING: ENSP00000362690
    NR5A2ENSP000003563314STRING: ENSP00000356331
    FOXA1ENSP000002504484STRING: ENSP00000250448
    SMARCD3ENSP000002621884STRING: ENSP00000262188
    WNT5AENSP000002646344STRING: ENSP00000264634
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS9888994
    GO:0009653anatomical structure morphogenesis TAS9888994
    GO:0021983pituitary gland development IEA--

    TBX19 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TBX19

    1 Novoseek inferred chemical compound relationship for TBX19 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acth 74.1 16 16483181 (4), 18228160 (2), 12651888 (2), 11290323 (1) (see all 8)



    TBX19 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TBX19 gene: 
    NM_005149.2  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367821(uc001gfj.4 uc001gfl.3 uc001gfm.3) ENST00000431969
    ENST00000441464 ENST00000465440
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TBX19 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate TBX19:
    hsa-miR-4303 hsa-miR-513a-5p hsa-miR-522 hsa-miR-4306 hsa-miR-224* hsa-miR-185 hsa-miR-552 hsa-miR-3670
    SwitchGear 3'UTR luciferase reporter plasmidTBX19 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TBX19
    Predesigned siRNA for gene silencing in human, mouse, rat TBX19
    Clone
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    OriGene clones in human, mouse for TBX19 (see all 6)
    OriGene ORF clones in mouse, rat for TBX19
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBX19 (NM_005149)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX19
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX19
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TBX19
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBX19
      QuantiTect SYBR Green Assays in human, mouse, rat TBX19
      QuantiFast Probe-based Assays in human, mouse, rat TBX19

    Selected AceView cDNA sequences (see all 59):

    AA983219 BC068098 AJ010277 AX747228 BX280470 AY358675 AK091862 AA676929 
    AI953686 AI299558 BF115008 AK129813 AL035297 BX956478 AI142087 BQ882680 
    AK091404 NM_005149 AX746960 AI655882 NM_199344 CD365919 CA308141 BF111697 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TBX19    About this scheme

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


    ECgene alternative splicing isoforms for TBX19

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TBX19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGCCTGTG
    TBX19 Expression
    About this image

    TBX19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBX19 Protein Expression
        Custom PCR Arrays for TBX19
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX19

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TBX19 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbx191 , 5 T-box 191, 5 89.06(n)1
    92.58(a)1
      1 (72.47 cM)5
    839931  NM_032005.41  NP_114394.11 
     1651378555 
    chicken
    (Gallus gallus)
    Aves TBX191 T-box 19 74.85(n)
    76.71(a)
      395793  NM_204950.1  NP_990281.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBX196
    T-box 19
    69(a)
    1 ↔ 1
    3(175139922-175161625)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005381801 T-box transcription factor TBX19-like 64.77(n)
    64.94(a)
      100538180  XM_003198759.2  XP_003198807.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta byn3 Malpighian tubule morphogenesis RNA
    polymerase more
    75(a)   68E3   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBX19 gene
    TBX12  TBX222  T2  TBX22  TBX62  TBX202  TBX32  TBX52  
    TBX152  TBX102  TBX42  TBX182  
    6 SIMAP similar genes for TBX19 using alignment to 3 protein entries:     TBX19_HUMAN (see all proteins):
    T    TBX6    MGA    TBX18    TBR1    TBX21

    TBX19 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TBX19 (see all 813)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0183874
    ACTH deficiency, isolated (IAD)4--see VAR_0183872 S F mis40--------
    rs743153781,2
    Cpathogenic1174812461(+) TGCCAG/TGTACT 2 R M mis10--------
    rs743153771,2
    Cpathogenic1174812587(+) GGACTC/TCCCCA 2 S F mis10--------
    rs743153761,2
    Cpathogenic1174826388(+) GTCTCC/TGAGGA 2 R * stg11Minor allele frequency- T:0.00NA 4552
    rs2007167161,2
    --139501333(+) CATAT-/TGTTTTT 1 -- int10--------
    rs357386181,2
    C--139501334(+) ATATTG/-TTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs672696221,2
    C--139501335(+) TATTT-/GTTTTT 1 -- int10--------
    rs362177521,2
    C--168254500(+) ACACA-/CAC   
       ACACA
    CACAC
    1 -- int10--------
    rs716613871,2
    C--168256855(+) TGTTA-/AAGAAA 1 -- int10--------
    rs113060291,2
    C--168258006(+) GGTACT/-TTTTT 1 -- int1 trp31Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for TBX19 (168250278 - 168283664 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TBX19:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831825CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): TBX19
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBX19
    DNA2.0 Custom Variant and Variant Library Synthesis for TBX19

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604614   
    OMIM disorders: 201400  
    UniProtKB/Swiss-Prot: TBX19_HUMAN, O60806
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 18 diseases for TBX19:    
    About MalaCards
    late-onset isolated acth deficiency    adrenocorticotropic hormone deficiency    isolated acth deficiency    acth deficiency
    lymphocytic hypophysitis    acth-secreting pituitary adenoma    hypopituitarism    pituitary adenoma
    holoprosencephaly    pituitary tumors    adenoma    essential hypertension
    hypertension    t-cell leukemia    thyroiditis    multiple myeloma
    myeloma    leukemia

    2 diseases from the University of Copenhagen DISEASES database for TBX19:
    Holoprosencephaly     ACTH-secreting pituitary adenoma

    TBX19 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for TBX19 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acth deficiency 89.7 7 12651888 (2), 15476446 (1), 15301051 (1), 15525497 (1) (see all 5)
    pituitary adenoma 57.1 4 12843142 (2), 16483181 (1)
    adenoma 52.4 5 12843142 (2), 16483181 (1), 18228160 (1)

    Genetic Association Database (GAD): TBX19
    Human Genome Epidemiology (HuGE) Navigator: TBX19 (2 documents)

    Export disorders for TBX19 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TBX19 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with TBX19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification, mapping and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19. (PubMed id 9888994)1, 2, 3 Yi C.-H.... Brook J.D. (Genomics 1999)
    2. A pituitary cell-restricted T-box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. (PubMed id 11290323)1, 2, 9 Lamolet B.... Drouin J. (Cell 2001)
    3. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (Eur. J. Hum. Genet. 2009)
    4. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)1, 4 Cheung C.L....Kung A.W. (Hum. Mol. Genet. 2009)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Tpit determines alternate fates during pituitary cell differentiation. (PubMed id 12651892)1, 9 Pulichino A.M....Drouin J. (amp 2003)
    8. 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. (PubMed id 16390921)1, 9 Weintrob N....Shohat M. (Pediatrics 2006)
    9. Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. (PubMed id 12651888)1, 9 Pulichino A.M....Drouin J. (amp 2003)
    10. TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. (PubMed id 15476446)1, 9 Metherell L.A....Clark A.J. (Eur. J. Endocrinol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9095 HGNC: 11596 AceView: TBX19 Ensembl:ENSG00000143178 euGenes: HUgn9095
    ECgene: TBX19 H-InvDB: TBX19

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TBX19 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TBX19[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TBX19 gene:
    Search GeneIP for patents involving TBX19

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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