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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TBX19 Gene

protein-coding   GIFtS: 56
GCID: GC01P168250

T-box 19
 Explore 14 diseases affiliated with
TBX19 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TBX19    

Aliases
for TBX19 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
T-Box 191 2     Dj747L4.11
TPIT1 2 3     DJ747L4.11
T-Box Factor, Pituitary2 3     T-Box Transcription Factor TBX192
T-Box Protein 192 3     TBS 192
TBS192 5     

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


Summaries
for TBX19 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TBX19:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TBX19

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for TBX19 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: TBX19_HUMAN, O60806 (See protein sequence)
Recommended Name: T-box transcription factor TBX19  
Size: 448 amino acids; 48238 Da
Subcellular location: Nucleus (Potential)
Secondary accessions: Q52M53

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60806

    • TBX19 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
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    OriGene Purified Protein: TBX19
    OriGene Protein Over-expression Lysate: TBX19
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    Novus Biologicals TBX19 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TBX19

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    TBX19 for ontologies           About GeneDecksing



    TBX19 Antibody Products: 
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    Uscn ELISAs and CLIAs for TBX19

    Protein Domains /
    Families
    for TBX19 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TBX19 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    IPB001699 Transcription factor
    IPB002070 Brachyury protein family signature


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


    Function
    for TBX19 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         Genatlas biochemistry entry for TBX19:
    murine T-box gene Tbx19 (T,brachyury) homolog,ortholog of chick TbxT

    miRNA
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    hsa-mir-122 (MIRT003092)

    Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX19
    8 QIAGEN miScript miRNA 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 plasmid: TBX19 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBX19 (see all 7)
    OriGene shRNA RFP: TBX19
    OriGene siRNA: TBX19
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX19

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TBX19

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBX19 (see all 3)
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    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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    Search LifeMap BioReagents cell lines for TBX19

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX19

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----


    TBX19 for ontologies           About GeneDecksing


    Animal Models:
         6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tbx19):
     endocrine/exocrine gland  homeostasis/metabolism  integument  nervous system  pigmentation 
     reproductive system 

    TBX19 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TBX19 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TBX19

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TBX19 (O608063 ENSP000003567954) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NR5A1Q132853, ENSP000003626904I2D: score=3 STRING: ENSP00000362690
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    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



    Drugs & Compounds
    for TBX19 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TBX19 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBX19
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about TBX19 

    Transcripts
    for TBX19 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for TBX19 gene: 
    NM_005149.2  

    Unigene Cluster for TBX19:

    T-box 19
    Hs.716656  [show with all ESTs]
    Unigene Representative Sequence: AJ010277
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367821(uc001gfj.4 uc001gfl.3 uc001gfm.3) ENST00000431969
    ENST00000441464 ENST00000465440

    miRNA
    Products:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX19
    8 QIAGEN miScript miRNA 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 plasmid: TBX19 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBX19 (see all 7)
    OriGene shRNA RFP: TBX19
    OriGene siRNA: TBX19
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX19
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBX19
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    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
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TBX19
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX19
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX19

    Additional cDNA sequence: 

    AJ010277.1 AK129813.1 BC093664.1 BC093666.1 

    4 DOTS entries:

    DT.95204293  DT.100016803  DT.100692813  DT.100016802 

    24/59 AceView cDNA sequences (see all 59):

    CA308141 BX280470 AI142087 AW467021 CD365919 AK129813 AK091404 AI953686 
    AL035297 AK091862 AA983219 BF115008 AI299815 AY358675 AX747228 AJ010277 
    CB850837 AA676929 AI655882 BE504539 CD742915 BC068098 AX746960 NM_005149 

    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

    Expression
    for TBX19 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TBX19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGGCCTGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TBX19 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainHypothalamusBrain
    BrainThalamusBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TBX19 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBX19

    SOURCE GeneReport for Unigene cluster: Hs.716656
        SABiosciences Custom PCR Arrays for TBX19
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX19

    Orthologs
    for TBX19 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for TBX19 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    MGA6
    		 --
    		 69(a)
    1(a)
    		 1 ↔ 1
    possible ortholog
    		 3(175139922-175159329)
    1(41056654-41078608)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1005381801 t-box transcription factor TBX19-like 64(n)
    64.32(a)    		   100538180  XM_003198759.1  XP_003198807.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta byn3 Malpighian tubule morphogenesis RNA
    polymerase more    		 75(a)   68E3   --
    worm
    (Caenorhabditis elegans)    		 Secernentea tbx-93 Brachyury 42(a)
    (best of 2)    		   III(10411723-10415490)   --


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

    Paralogs
    for TBX19 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBX19 gene
    TBX12  TBX222  T2  EOMES2  TBX22  TBX62  TBX212  TBX32  
    TBX202  TBX52  TBX102  TBX42  TBX152  TBR12  TBX182  
    8 SIMAP similar genes for TBX19 using alignment to 3 protein entries:     TBX19_HUMAN (see all proteins):
    T    TBX6    MGA    TBX18    TBR1    TBX5
    TBX21    TBX4

    TBX19 for paralogs           About GeneDecksing



    Genomic Variants
    for TBX19 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/667 NCBI SNPs in TBX19 are shown (see all 667)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs743153761,2
    		Cpathogenic140484557(+) GTCTCC/TGAGGA 2 R * stg11Minor allele frequency- T:0.00NA 4552
    rs743153771,2
    		Cpathogenic140498381(+) GGACTC/TCCCCA 2 S F mis10--------
    rs743153781,2
    		Cpathogenic140498507(+) TGCCAG/TGTACT 2 R M mis10--------
    rs120953311,2
    		C,F,H,--139493001(+) CTGCTC/TCTGTC 1 -- us2k19Minor allele frequency- T:0.07NS EA NA WA CSA 540
    rs730339591,2
    		C,--139493017(+) CACCCG/ACCATC 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs745544411,2
    		C,--139493371(+) AGGGCC/TCTTGA 1 -- us2k13Minor allele frequency- T:0.17WA CSA 122
    rs109188631,2
    		C,F,H,--139493463(+) GCTCTT/CTTCTT 1 -- us2k1 trp310Minor allele frequency- C:0.02NS EA NA WA 1192
    rs586310501,2
    		C,--139493633(+) TGGGCA/GTCAAG 1 -- us2k12Minor allele frequency- G:0.06WA 120
    rs558674151,2
    		C,--139494048(+) CTCTCC/TGCTCC 1 -- us2k12Minor allele frequency- T:0.06WA 120
    rs730339621,2
    		C,--139494628(+) CCCCAC/TTGGGA 1 -- int11Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for TBX19 (168250278 - 168283664 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TBX19
         1 CNV: 4261
    Human Gene Mutation Database (HGMD): TBX19

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBX19
    DNA2.0 Custom Variant and Variant Library Synthesis for TBX19

    Disorders / Diseases
    for TBX19 gene

    (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.)
    About This Section
    TBX19 for disorders           About GeneDecksing

    OMIM gene information: 604614   
    OMIM disorders: 201400  
    UniProtKB/Swiss-Prot: TBX19_HUMAN, O60806
  • Defects in TBX19 are a cause of ACTH deficiency isolated (IAD) [MIM:201400]. ACTH deficiency 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

    14 diseases for TBX19:    About MalaCards
    acth deficiency    adrenocorticotropic hormone deficiency    isolated acth deficiency    pituitary adenoma
    hypopituitarism    essential hypertension    holoprosencephaly    adenoma
    pituitary tumor    hypertension    t-cell leukemia    pharyngitis
    leukemia    thyroiditis

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

    3 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: TBX19 (2 documents)

    Export disorders for TBX19 gene to outside databases

    Publications
    for TBX19 gene

    (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)
    About This Section

    PubMed articles for TBX19 gene, integrated from 9 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. (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. (2001)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. 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. (2004)
    5. Tpit determines alternate fates during pituitary cell differentiation. (PubMed id 12651892)1, 9 Pulichino A.M....Drouin J. (2003)
    6. 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. (2006)
    7. Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. (PubMed id 12651888)1, 9 Pulichino A.M....Drouin J. (2003)
    8. 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. (2004)
    9. Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene muta tions. (PubMed id 22170728)1 Couture C....Vallette S. (2012)
    10. Identification of TPIT and other novel autoantigens in lymphocytic hypophysitis: immunoscreening of a pituitary cDNA library and devel opment of immunoprecipitation assays. (PubMed id 22193973)1 Smith C.J....Crock P.A. (2012)

    External Searches for TBX19 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing TBX19 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9095 HGNC: 11596 AceView: TBX19 Ensembl:ENSG00000143178 euGenes: HUgn9095
    ECgene: TBX19 H-InvDB: TBX19

    Other Databases showing TBX19 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TBX19 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TBX19 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBX19

    Intellectual Property
    for TBX19 gene

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

    GeneCards and IP:
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