Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

TBX15 Gene

protein-coding   GIFtS: 50
GCID: GC01M119425

T-Box 15

(Previous name: T-box 14)
(Previous symbol: TBX14)
  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)
About This Section

Aliases
T-Box 151 2     T-Box Protein 152 3
TBX141 2 3     T-Box Transcription Factor TBX142 3
T-Box 141 2     T-Box Transcription Factor TBX152
T-Box Protein 142 3     

External Ids:    HGNC: 115941   Entrez Gene: 69132   Ensembl: ENSG000000926077   OMIM: 6041275   UniProtKB: Q96SF73   

Export aliases for TBX15 gene to outside databases

Previous GC identifers: GC01U990165 GC01M118264 GC01M118572 GC01M118772 GC01M119137 GC01M119227 GC01M117285


(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 TBX15 Gene:
This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription
factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding
domain. Mutations in this gene are associated with Cousin syndrome.(provided by RefSeq, Oct 2009)

GeneCards Summary for TBX15 Gene: 
TBX15 (T-box 15) is a protein-coding gene. Diseases associated with TBX15 include cousin syndrome, and acromegaloid facial appearance syndrome. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TBX1.

UniProtKB/Swiss-Prot: TBX15_HUMAN, Q96SF7
Function: Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral
column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBX15 gene promoter:
         Spz1   p53   NRSF form 1   NRSF form 2   C/EBPalpha   AREB6   CHOP-10   Sox9   IRF-7A   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TBX15 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBX15

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBX15


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

Entrez Gene cytogenetic band: 1p11.1   Ensembl cytogenetic band:  1p12   HGNC cytogenetic band: 1p11.1

TBX15 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBX15 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M119425:  view genomic region     (about GC identifiers)

Start:
119,425,666 bp from pter      End:
119,532,179 bp from pter
Size:
106,514 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TBX15_HUMAN, Q96SF7 (See protein sequence)
Recommended Name: T-box transcription factor TBX15  
Size: 602 amino acids; 65757 Da
Subcellular location: Nucleus (Potential)
Secondary accessions: Q08E76 Q5JT54 Q5T9S7
Alternative splicing: 2 isoforms:  Q96SF7-1   Q96SF7-2   (No experimental confirmation available. Gene prediction based on similarity to orthologs)

Explore the universe of human proteins at neXtProt for TBX15: NX_Q96SF7

Explore proteomics data for TBX15 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96SF7

  • TBX15 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBX15 Protein Expression
    REFSEQ proteins: NP_689593.2  
    ENSEMBL proteins: 
     ENSP00000207157   ENSP00000398625   ENSP00000358437  

    Human Recombinant Protein Products for TBX15: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for TBX15
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for TBX15
    GenScript Custom Purified and Recombinant Proteins Services for TBX15
    Novus Biologicals TBX15 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TBX15 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0070722Tle3-Aes complex IEA--

    TBX15 for ontologies           About GeneDecksing



    TBX15 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for TBX15
    GenScript Custom Superior Antibodies Services for TBX15
    Novus Biologicals TBX15 Antibody
    Abcam antibodies for TBX15
    Cloud-Clone Corp. Antibodies for TBX15 
    Search ThermoFisher Antibodies for TBX15
    LSBio Antibodies in human, mouse, rat for TBX15 

    Assay Products for TBX15: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TBX15
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TBX15
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TBX15 
    Cloud-Clone Corp. CLIAs for TBX15


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

    3 InterPro protein domains:
     IPR001699 TF_T-box
     IPR008967 p53-like_TF_DNA-bd
     IPR018186 TF_T-box_CS

    Graphical View of Domain Structure for InterPro Entry Q96SF7

    ProtoNet protein and cluster: Q96SF7

    1 Blocks protein domain: IPB001699 Transcription factor

    UniProtKB/Swiss-Prot: TBX15_HUMAN, Q96SF7
    Similarity: Contains 1 T-box DNA-binding domain


    TBX15 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBX15_HUMAN, Q96SF7
    Function: Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral
    column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity)

         Genatlas biochemistry entry for TBX15:
    murine T-box gene Tbx15 (T,brachyury) homolog,expressed in the craniofacial region and in the developing
    limbs,maybe a candidate gene for acromegaloid facial appearance syndrome

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
    GO:0001106RNA polymerase II transcription corepressor activity IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0042803protein homodimerization activity IEA--
    GO:0046982protein heterodimerization activity IEA--
         
    TBX15 for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tbx15):
     behavior/neurological  craniofacial  embryogenesis  growth/size  hearing/vestibular/ear 
     integument  limbs/digits/tail  mortality/aging  muscle  pigmentation 
     reproductive system  skeleton  vision/eye 

    TBX15 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TBX15 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TBX15

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBX15 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBX15 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX15
    8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate TBX15 (see all 40):
    hsa-miR-3130-5p hsa-miR-485-3p hsa-miR-218 hsa-miR-890 hsa-miR-889 hsa-miR-3622a-5p hsa-miR-647 hsa-miR-1298
    SwitchGear 3'UTR luciferase reporter plasmidTBX15 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TBX15
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX15

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TBX15
    Sirion Biotech Customized adenovirus for overexpression of TBX15

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for TBX15 (see all 6)
    OriGene ORF clones in mouse, rat for TBX15
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBX15 (NM_152380)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX15
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX15
    Sirion Biotech Customized lentivirus for stable overexpression of TBX15 
                         Customized lentivirus expression plasmids for stable overexpression of TBX15 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TBX15
    LifeMap BioReagents: cell lines associated with TBX15: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor,
    PureStem E15, Meso-prx/latp Progenitor, PureStem SK11, NCr-fac & Meso-prx Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX15


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBX15

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0048701embryonic cranial skeleton morphogenesis IEA--
    GO:0048704embryonic skeletal system morphogenesis ----

    TBX15 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBX15

    Search CenterWatch for drugs/clinical trials and news about TBX15

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TBX15 gene: 
    NM_152380.2  

    Unigene Cluster for TBX15:

    T-box 15
    Hs.146196  [show with all ESTs]
    Unigene Representative Sequence: NM_152380
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000207157(uc001ehl.1) ENST00000449873(uc009whj.1) ENST00000369429

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX15
    8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate TBX15 (see all 40):
    hsa-miR-3130-5p hsa-miR-485-3p hsa-miR-218 hsa-miR-890 hsa-miR-889 hsa-miR-3622a-5p hsa-miR-647 hsa-miR-1298
    SwitchGear 3'UTR luciferase reporter plasmidTBX15 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TBX15
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX15
    Clone
    Products:
         
    OriGene clones in human, mouse for TBX15 (see all 6)
    OriGene ORF clones in mouse, rat for TBX15
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBX15 (NM_152380)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX15
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX15
    Sirion Biotech Customized lentivirus for stable overexpression of TBX15 
                         Customized lentivirus expression plasmids for stable overexpression of TBX15 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TBX15
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TBX15
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX15
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX15

    Additional mRNA sequence: 

    AK096396.1 AK127536.1 BC122553.1 BX537778.1 

    1 DOTS entry:

    DT.108098 

    24/27 AceView cDNA sequences (see all 27):

    BP344120 AI337290 AA382497 BX118683 AK127536 AA463229 BF526419 AW316890 
    CA448704 CB055036 AI468158 AA780077 N66986 AK096396 CB055037 BF431972 
    CA412451 AA463230 BX537778 BE298975 CA436813 BF475554 AI039005 BE294186 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TBX15    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                                            -         
    SP2:                                                      


    ECgene alternative splicing isoforms for TBX15

    (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

    TBX15 expression in normal human tissues (normalized intensities)      TBX15 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCCAGGGAA
    TBX15 Expression
    About this image


    TBX15 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Fibroblast
             Detroit 551
             Human Villous Mesenchymal Fibroblasts (HVMF)   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 5 entries
             Limb Muscle Progenitor Cells Forelimb Myotome
             Human Skeletal Muscle Myoblast (HSkMM)   
             cavities and their linings/intraembryonic coelom/diaphragm   
     
     Dermis (Integumentary System)    fully expand to see all 4 entries
             BH2 Dermal Fibroblasts   
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells

    See TBX15 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBX15

    SOURCE GeneReport for Unigene cluster: Hs.146196
        SABiosciences Custom PCR Arrays for TBX15
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for TBX15
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TBX15
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX15
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX15
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX15

    (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 chordates.

    Orthologs for TBX15 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbx151 , 5 T-box 151, 5 93.01(n)1
    98.99(a)1
      3 (43.03 cM)5
    213841  NM_009323.21  NP_033349.21 
     992403815 
    chicken
    (Gallus gallus)
    Aves TBX151 T-box 15 85.12(n)
    93.94(a)
      418313  XM_416537.3  XP_416537.3 
    lizard
    (Anolis carolinensis)
    Reptilia TBX156
    Uncharacterized protein
    73(a)
    1 ↔ 1
    GL343218.1(597898-671828)
    zebrafish
    (Danio rerio)
    Actinopterygii tbx152 T-box 15 76.91(n)   246222  AF448504.1 


    ENSEMBL Gene Tree for TBX15 (if available)
    TreeFam Gene Tree for TBX15 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBX15 gene
    TBX12  TBX222  TBX192  T2  EOMES2  TBX22  TBX62  TBX212  
    TBX202  TBX32  TBX52  TBR12  TBX42  TBX102  TBX182  
    8 SIMAP similar genes for TBX15 using alignment to 2 protein entries:     TBX15_HUMAN (see all proteins):
    TBX18    DKFZp779A1451    TBX22    TBX10    TBX6    TBX20
    TBX1    TBX5

    TBX15 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) 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

    10/2176 SNPs in TBX15 are shown (see all 2176)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1419534311,2
    Cuntested1119499218(+) GCAACG/AAGGGA 2 /S /L mis11Minor allele frequency- A:0.00NA 4552
    rs1386291781,2
    C--117298757(+) GGTCA-/CTGAAG 1 -- int10--------
    rs114015741,2
    C--119432425(+) AAAAA-/A/AT  
            
    TTTAG
    1 -- int11CSA 2
    rs596945881,2
    C--119432438(+) AAAAA-/TTTAGT 1 -- int10--------
    rs107152451,2
    C,F--119434778(+) TCTGTA/-AAAAA 1 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs560301931,2
    --119435987(+) AAGAAA/GGAAAG 1 -- int10--------
    rs561463491,2
    --119436029(+) GAAAGA/GAAGGA 1 -- int10--------
    rs583448921,2
    C--119453033(+) TTGTT-/GTTTTACC 1 -- cds10--------
    rs114483131,2
    C--119454943(+) TTTTTT/-GAAAA 1 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs570463081,2
    C--119465554(+) AACTA-/AAC   
      T
    /ACTA
    TTTTA
    1 -- int11NA 2

    HapMap Linkage Disequilibrium report for TBX15 (119425666 - 119532179 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for TBX15:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2675423CNV Deletion23128226
    nsv506958CNV Insertion20534489
    esv25417CNV Loss19812545
    nsv160473CNV Loss16902084
    nsv831181CNV Gain17160897
    nsv524681CNV Gain19592680


    Human Gene Mutation Database (HGMD): TBX15
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TBX15
    DNA2.0 Custom Variant and Variant Library Synthesis for TBX15

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604127   
    OMIM disorders: 260660  
    UniProtKB/Swiss-Prot: TBX15_HUMAN, Q96SF7
  • Cousin syndrome (COUSS) [MIM:260660]: Defined as pelviscapular dysplasia with epiphyseal abnormalities,
    congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set
    globes, strabismus, low-set posteriory rotated and unusually formed external ears, dysplasia of conchae, small
    chin, short neck with redundant skin folds, and a low hairline). Intelligence may vary from normal to moderately
    impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone,
    humeroradial synosthosis, dislocation of the femoral heads, and moderate brachydactyly. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 6 diseases for TBX15:    About MalaCards
    cousin syndrome    acromegaloid facial appearance syndrome    strabismus    brachydactyly
    dwarfism    short stature


    TBX15 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TBX15
    Human Genome Epidemiology (HuGE) Navigator: TBX15 (3 documents)

    Export disorders for TBX15 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)
    About This Section

    PubMed articles for TBX15 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TBX15)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distr ibution. (PubMed id 20935629)1, 4 Heid I.M....Lindgren C.M. (2010)
    3. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    4. TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. (PubMed id 19068278)1, 2 Lausch E....Superti-Furga A. (2008)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Cloning, mapping, and expression analysis of TBX15, a new member of the T-Box gene family. (PubMed id 9693034)1, 3 Agulnik S.I....Silver L.M. (1998)
    8. Combination of promoter hypomethylation and PDX1 over expression leads to TBX15 decrease in vascular IUGR placentas. (PubMed id 20962579)1 Chelbi S.T....Vaiman D. (2011)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6913 HGNC: 11594 AceView: TBX15 Ensembl:ENSG00000092607 euGenes: HUgn6913
    ECgene: TBX15 H-InvDB: TBX15

    (According to HUGE)
    About This Section
      --

    (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 TBX15 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TBX15 gene:
    Search GeneIP for patents involving TBX15

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for TBX15  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for TBX15  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for TBX15  
     OriGene qSTAR qPCR primer pairs in human, mouse for TBX15   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for TBX15   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TBX15   OriGene Custom Protein Services for TBX15  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TBX15
     QIAGEN SeqTarget long-range PCR primers for resequencing TBX15
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBX15
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX15
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX15
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX15
     GenScript Custom Purified and Recombinant Proteins Services for TBX15 GenScript cDNA clones with any tag delivered in your preferred vector for TBX15
     GenScript Custom Assay Services for TBX15 GenScript Custom Superior Antibodies Services for TBX15
     GenScript Custom overexpressing Cell Line Services for TBX15 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in TBX15 promoter
     Search Chromatin IP Primers for TBX15
     RT2 qPCR Primer Assay in human, mouse, rat TBX15
     Search GNC Networks for TBX15
     SABiosciences Custom PCR Arrays for TBX15
     Search Tocris compounds for TBX15
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     TBX15 antibodies
     TBX15 lysates
     Antibodies for TBX15
     See all of Abcam's Antibodies, Kits and Proteins for TBX15
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for TBX15
     Antibodies for TBX15
     ELISAs for TBX15
     CLIAs for TBX15
     Cell Lines associated with TBX15: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor,
    PureStem E15, Meso-prx/latp Progenitor, PureStem SK11, NCr-fac & Meso-prx Progenitor
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX15
     SwitchGear 3'UTR luciferase reporter plasmids for TBX15
     SwitchGear Promoter luciferase reporter plasmids for TBX15
     Search ThermoFisher Antibodies for TBX15
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX15
     inGenious Targeting Laboratory - Custom generated mouse model solutions for TBX15
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TBX15
    Customized:
     lentivirus for stable overexpression of TBX15
     lentivirus expression plasmids for stable overexpression of TBX15
     adenovirus for overexpression of TBX15
     LSBio Antibodies in human, mouse, rat for TBX15
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      TBX15 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4