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TBX15 Gene

protein-coding   GIFtS: 50
GCID: GC01M119425

T-Box 15

(Previous name: T-box 14)
(Previous symbol: TBX14)
  See TBX15-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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   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 Chromatin IP Primers for TBX15

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TBX15_HUMAN, Q96SF7 (See protein sequence)
Recommended Name: T-box transcription factor TBX15  
Size: 602 amino acids; 65757 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TBX15 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689593.2  
    ENSEMBL proteins: 
     ENSP00000207157   ENSP00000398625   ENSP00000358437  

    TBX15 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TBX15

     
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    antibodies-online proteins for TBX15 (2 products) 

     
    antibodies-online peptides for TBX15

    TBX15 Antibody Products:

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    antibodies-online antibodies for TBX15 (18 products) 

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    Cloud-Clone Corp. ELISAs for TBX15
    Cloud-Clone Corp. CLIAs for TBX15
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    antibodies-online kits for TBX15 (4 products) 


    (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

    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


    Find genes that share domains with TBX15           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with TBX15           About GenesLikeMe


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

    Find genes that share phenotypes with TBX15           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TBX15

    miRNA
    Products:
        
    miRTarBase miRNAs that target TBX15:
    hsa-mir-335-5p (MIRT017037)

    Block miRNA regulation of human, mouse, rat TBX15 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for TBX15
    Predesigned siRNA for gene silencing in human, mouse, rat TBX15

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for TBX15 (see all 5)
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TBX15
    ESI BIO PureStem Progenitors for 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


    (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
    TBX15_HUMAN, Q96SF7: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with TBX15           About GenesLikeMe


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBX15
    Interactions:

        Search GeneGlobe Interaction Network for TBX15

    Gene Ontology (GO): 4 biological process terms:    About this table

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

    Find genes that share ontologies with TBX15           About GenesLikeMe



    (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 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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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:
         
    Block miRNA regulation of human, mouse, rat TBX15 using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for TBX15
    Predesigned siRNA for gene silencing in human, mouse, rat TBX15
    Clone
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    OriGene clones in human, mouse for TBX15 (see all 5)
    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
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TBX15
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBX15
      QuantiTect SYBR Green Assays in human, mouse, rat TBX15
      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 

    Selected AceView cDNA sequences (see all 27):

    CA448704 BX118683 AA382497 AA463229 AI337290 BP344120 AK127536 BF526419 
    AW316890 AA780077 AK096396 AA463230 BE298975 CB055037 CA412451 N66986 
    BF431972 CA436813 CB055036 BX537778 AI468158 BG928869 BF475554 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™, 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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    TBX15 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 14) fully expand
     
     Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 3 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             PureStem E15, Meso-prx/latp Progenitor
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells
    TBX15 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBX15 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.146196
        Custom PCR Arrays for TBX15
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TBX15 gene from Selected species (see all 13)    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_416537.4  XP_416537.3 
    lizard
    (Anolis carolinensis)
    Reptilia TBX156
    T-box 15
    73(a)
    1 ↔ 1
    GL343218.1(597898-671828)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tbx151 T-box 15 78.11(n)
    89.29(a)
      100489988  XM_002940981.2  XP_002941027.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbx152 T-box 15 76.91(n)   246222  AF448504.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mls-16
    Protein MLS-1 (mls-1) mRNA, complete cds
    46(a)
    1 → many
    III(7460341-7461931) WBGene00003376


    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)
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    Paralogs for TBX15 gene
    TBX12  TBX222  TBX192  T2  TBX22  TBX62  TBX202  TBX32  
    TBX52  TBX102  TBX42  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

    Find genes that share paralogs with TBX15           About GenesLikeMe



    (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 TBX15 (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 3 diseases for TBX15:    
    About MalaCards
    cousin syndrome    acromegaloid facial appearance syndrome    cavernous malformations of cns and retina


    Find genes that share disorders with TBX15           About GenesLikeMe

    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)
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    PubMed articles for TBX15 gene, integrated from 10 sources (see all 11):
    (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. (Mol. Med. 2010)
    2. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. (PubMed id 20935629)1, 4 Heid I.M....Lindgren C.M. (Nat. Genet. 2010)
    3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 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. (Am. J. Hum. Genet. 2008)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genomics 1998)
    8. A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. (PubMed id 23708190)1 Hu Z....Shen H. (Nat. Genet. 2013)
    9. Combination of promoter hypomethylation and PDX1 overexpression leads to TBX15 decrease in vascular IUGR placentas. (PubMed id 20962579)1 Chelbi S.T....Vaiman D. (Epigenetics 2011)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6913 HGNC: 11594 AceView: TBX15 Ensembl:ENSG00000092607 euGenes: HUgn6913
    ECgene: TBX15 H-InvDB: TBX15

    (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)
    About This Section

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    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

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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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