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FLASH GENE
Symbol TBX4 contributors: mct - updated : 07-02-2006
HGNC name T-box 4
HGNC id 11603
Corresponding disease
DEL17Q23 chromosome 17q23.2 microdeletion
DUP17QO chromosome 17q duplications, others
PTLAH patella, aplasia-hypoplasia
Location 17q23.2      Physical location : 59.533.806 - 59.561.663
Synonym name T-box transcription factor TBX4
Synonym symbol(s) SPS
DNA
TYPE functioning gene
STRUCTURE 27.86 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - TBX4 - D17S1855 - TBX2 - D17S808 - D17S948 - qter
Authors Yi (00)
Physical map
VMP1 17q23.2 likely ortholog of rat vacuole membrane protein 1 TUBD1 17q23.2 likely ortholog of mouse tubulin, delta 1 RPS6KB1 17q23.3 ribosomal protein S6 kinase, 70kDa, polypeptide 1 LOC51136 17q23.2 PTD016 protein LOC390805 17 similar to DEAH (Asp-Glu-Ala-His) box polypeptide 40 LOC388404 17 similar to TBC1 domain family member 3 (Rab GTPase-activating protein PRC17) (Prostate cancer gene 17 protein) (TRE17 alpha protein) LOC201201 17q23.2 hypothetical LOC201201 ABC1 17q23.2-q23.3 amplified in breast cancer 1 LOC388405 17 LOC388405 CA4 17q23 carbonic anhydrase IV USP32 17q23.3 ubiquitin specific protease 32 LOC124773 17q23.3 hypothetical protein LOC124773 LOC284166 17q23.3 similar to 60S ribosomal protein L12 APPBP2 17q23 amyloid beta precursor protein (cytoplasmic tail) binding protein 2 LOC388406 17 hypothetical gene supported by AK131012 PPM1D 17q23.1 protein phosphatase 1D magnesium-dependent, delta isoform BCAS3 17q23 breast carcinoma amplified sequence 3 TBX2 17q23 T-box 2 LOC388407 17 hypothetical gene supported by BC046200 TBX4 17q23 T-box 4 MGC71999 17q23.3 alpha-NAC protein BRIP1 17q22-q24 BRCA1 interacting protein C-terminal helicase 1 KIAA1287 17q23.3 KIAA1287 protein TRAP240 17q23 KIAA1287 protein LOC284167 17q23.3 similar to RPOM_HUMAN LOC388408 17 similar to Ribosomal protein S6 kinase (S6K) (p70-S6K) LOC388409 17 hypothetical gene supported by BC058890 FLJ25818 17q24.1 hypothetical protein FLJ25818 FLJ12760 17q24.1 hypothetical protein FLJ12760 TLK2 17q23 tousled-like kinase 2 MRC2 17q21.1-q23 mannose receptor, C type 2 FLJ35757 17q24.1 hypothetical protein FLJ35757 DKFZP564D166 17q24.1 putative ankyrin-repeat containing protein
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 2470 - 545 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Respiratorylung    
Skeletonappendicular skeletonlower limbs   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text embryonic, developing hindlimb
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a T-box domain, DNA-binding domain
  • a C-terminal transactivation/repression domain
  • HOMOLOGY
    interspecies homolog to murine Tbx4
    intraspecies homolog to TBX5,highly
    Homologene
    FAMILY
  • T box family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in the transcriptional regulation of genes required for mesoderm differentiation and the initiation of hindlimb outgrow
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text anteroposterior axis; developing hindlimb
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding through T-box
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PTLAH , DEL17Q23 , DUP17QO
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   amplification    
    familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4 (Alvarado 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS