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FLASH GENE
Symbol TBX19 contributors: mct - updated : 25-04-2012
HGNC name T-box 19
HGNC id 11596
Corresponding disease
ACTHD ACTH deficiency, isolated
Location 1q24.2      Physical location : 168.250.277 - 168.283.662
Synonym name Tbox factor, pituitary
Synonym symbol(s) TBS19, TPIT, ACTHD, RP4-747L4.2, FLJ26302, FLJ34543
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
STRUCTURE 33.39 kb     8 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
LOC391129 1 similar to ribosomal protein L4; 60S ribosomal protein L4; homologue of Xenopus ribosomal protein L1 POGK 1q23.2 pogo transposable element with KRAB domain STAF42 1q23.3 SPT3-associated factor 42 LOC388712 1 similar to dJ782G3.1 (LISCH7 (liver-specific BHLH-ZIP transcription factor)) FLJ14904 1q23.3 hypothetical protein FLJ14904 GPA33 1q23.2 glycoprotein A33 (transmembrane) LOC92235 1q22-q24 hypothetical cardiac/skeletal muscle-expressed ORF LOC391130 1 similar to ribosomal protein S17 POU2F1 1q22-q23 POU domain, class 2, transcription factor 1 CD3Z 1q22-q23 CD3Z antigen, zeta polypeptide (TiT3 complex) SRD5BP1 1q23-q25 steroid-5-beta-reductase, beta polypeptide pseudogene 1 CREG 1q24 cellular repressor of E1A-stimulated genes MGC21854 1q22-q24 hypothetical protein MGC21854 MPZL1 1q23.2 myelin protein zero-like 1 FLJ21047 1q23.3 hypothetical protein FLJ21047 SAC DKFZP564B167 1q24 DKFZP564B167 protein PC326 1q23.3 PC326 protein GCSH 16q24 glycine cleavage system protein H (aminomethyl carrier) GPR161 1q23.3 G protein-coupled receptor 161 MGC3794 1q23.2 putative MAPK activating protein RPL34P1 1q23-q24 ribosomal protein L34 pseudogene 1 LOC375035 1q23.3 hypothetical protein LOC375035 MGC12538 1q23.3 hypothetical protein MGC12538 TBX19 1q23-q24 T-box 19 LOC391131 1 similar to glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 XCL2 1q23-q25 chemokine (C motif) ligand 2 XCL1 1q23 chemokine (C motif) ligand 1 DPT 1q12-q23 dermatopontin MGC4473 1q23.3 hypothetical protein MGC4473 LOC391132 1 similar to ribosomal protein L29 ATP1B1 1q23.2-q23.3 ATPase, Na+/K+ transporting, beta 1 polypeptide NME7 1q24 non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) BLZF1 1q24-q25 basic leucine zipper nuclear factor 1 (JEM-1) LOC57821 1q24 hypothetical protein LOC57821 SLC19A2 1q23.2-q23.3 solute carrier family 19 (thiamine transporter), member 2 F5 1q23.2-q23.3 coagulation factor V (proaccelerin, labile factor) SELP 1q23.2-q41.2 selectin P (granule membrane protein 140kDa, antigen CD62) SELL 1q23.2-q23.3 selectin L (lymphocyte adhesion molecule 1) SELE 1q23.2-q23.1 selectin E (endothelial adhesion molecule 1) MGC9084 1q23.3 hypothetical protein MGC9084 FLJ10706 1q23.3 hypothetical protein FLJ10706
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 2882 - 448 - 2003 12668595
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivepharynx   highly
 stomach   highly
endocrinebraindiencephalonpituitary highly
Endocrineparathyroid   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
cell lineage two pituitary POMC expression lineages the corticotrophs and melanotrophs
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text selectively expressed in developing corticotroph cells
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a large N terminal DNA binding domain (T-box)
  • HOMOLOGY
    interspecies homolog to murine T-box gene Tbx19 (Tbrachyury)
    homolog to chicken TbxT
    Homologene
    FAMILY T box family
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • playing a role in differentiation of the pituitary POMC lineage and in activation of POMC promoter sinergistically with PITX1
  • T-box transcription factor important for terminal differentiation of pituitary proopiomelanocortin-expressing cells
  • corticotroph-specific transcription factor
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development , nervous system
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding through T-box
    RNA
    small molecule
    protein
  • activating POMC
  • coordinate expression of ETV1 with POMC cell differentiation and its interaction with the highly cell-restricted TBX19 factor indicate that ETV1 participates in a combinatorial code for pituitary cell-specific gene expression
  • PAX7 acts by remodeling chromatin and allowing TBX19 binding to a new subset of enhancers for activation of melanotrope-specific genes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACTHD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • target autoantigen in 10.5p100 of patients with lymphocytic hypophysitis
  • Therapy target
    ANIMAL & CELL MODELS