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Aliases & Descriptions for TBX3
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases TBX3-ISO 1 , 2 UMS 2 XHL 1 , 2
Descriptions T-box 3 2 T-box 3 protein 2 T-box protein 3 3 T-box transcription factor TBX3 2 bladder cancer related protein XHL 2 ulnar mammary syndrome 1
Search outside databases for aliases for TBX3 genePrevious GC identifers: GC12M114019 GC12M114628 GC12M114890 GC12M113520
Summaries for TBX3 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for TBX3 : This gene is a member of a phylogenetically conserved family of genes that share a commonDNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulationof developmental processes. This protein is a transcriptional repressor and is thought to play arole in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene causeulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development.Alternative splicing of this gene results in three transcript variants encoding differentisoforms; however, the full length nature of one variant has not been determined. [provided byRefSeq] UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119 Function : Transcriptional repressor involved in developmental processes. Probably plays a role inlimb pattern formation
Gene Wiki entry for TBX3
Genomic Location for TBX3
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the TBX3 gene Entrez Gene cytogenetic band: 12q24.1 Ensembl cytogenetic band: 12q24.21 HGNC cytogenetic band: 12q24.1 TBX3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12M113570:
(about GC identifiers )
Start:
113,592,442 bp from pter
End:
113,606,352 bp from pter
Size:
13,911 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000012.10 NT_009775.16 Proteins for TBX3
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119 (See
protein sequence )Recommended Name: T-box transcription factor TBX3 Size : 743 amino acids; 79389 Da
Subcellular location : Nucleus (Potential)
PDB structures from and Proteopedia : 1H6F (3D)
 
Secondary accessions : Q8TB20 Q9UKF8Alternative splicing : 4 isoforms : O15119-1 O15119-2 O15119-3 O15119-4
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_005987.3 NP_057653.3 ENSEMBL proteins: ENSP00000257566 ENSP00000257567 ENSP00000354397 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: TBX3 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for TBX3: Invitrogen Antibodies for TBX3 Millipore Mono- and Polyclonal Antibodies for the study of TBX3 Sigma-Aldrich Antibodies for TBX3 R&D Systems Antibodies for TBX3 Antibodies from Abcam (Tbx3 ), each with their Abpromise SM Monoclonal and Polyclonal Antibodies from Abnova (TBX3 ) Novus Biologicals Antibodies for TBX3
Assays for TBX3:
Protein
Domains/ Families for TBX3(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry O15119 ProtoNet protein and cluster: O15119
1 Blocks protein family : IPB001699 Transcription factor UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119 Similarity : Contains 1 T-box DNA-binding domain
Gene Function for TBX3
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_016569 Applied Biosystems Silencer ® siRNAs for TBX3 Sigma-Aldrich siRNA for TBX3 Sigma-Aldrich shRNA for TBX3 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_005996                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_005996                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_005996  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_016569 UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119 Function : Transcriptional repressor involved in developmental processes. Probably plays a role inlimb pattern formation
Genatlas biochemistry entry for TBX3 :murine T-box gene Tbx3 (T,brachyury)homolog,putative transcription factor,pairing with TBX5,homologto Drosophila optomotor-blind gene (omb),involved in optic lobe and wing development,involved indevelopmental regulation,expressed in anterior and posterior mouse limb buds,widely expressed inadults
10 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Tbx3) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for TBX3
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for TBX3 5/14 Interacting proteins for TBX3 (ENSP00000257566 3 ) via UniProtKB, MINT, and/or STRING (see all 14
)About this table 5/20 Gene Ontology (GO) biological process terms (links to tree view) (see all 20
):
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Drugs & Compounds for TBX3 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for TBX3
Transcripts for TBX3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
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Millipore , and/or
Abnova ,
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Sigma-Aldrich ,
shRNA from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_016569 Sigma-Aldrich siRNA for TBX3 Sigma-Aldrich shRNA for TBX3 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_005996 NM_016569
REFSEQ mRNAs for TBX3 gene (2 alternative transcripts): NM_005996.3 NM_016569.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005996 NM_016569
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_005996                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_005996                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_005996  
Additional cDNA sequence: AF002228.1 AF074999.1 AF140240.1 AF170708.2 AF216750.1 AK054604.1 AK075457.1 AK130978.1 AK304639.1 AY034105.1 BC025258.1 CR618062.1
11 DOTS entries : DT.216500 DT.91980610 DT.105635 DT.121181995 DT.40126465 DT.40127993 DT.121181998 DT.75153637 DT.92436721 DT.121181994 DT.95268862
24/263 AceView cDNA sequences (see all 263
):AI200223 AI200118 BU688119 AI347976 BM997578 AI499622 NM_016569 AV702518 AI823662 AF002228 BF002728 BQ188072 AI220883 AI762596 BG055137 BQ948902 BM771638 BV177985 CB048970 AI004151 BQ015077 AI374773 AI183433 AI347688
highest scoring ESTs for TBX3 :AF002228 AF170708 AI659386 AI806338 AI888845 AK054604 AW136159 BC025258 BE735102 BM012034
Unigene Cluster for TBX3: T-box 3 Hs.714737 [show with all ESTs ] Unigene Representative Sequence: NM_016569 GeneLoc Exon Structure 2 Alternative Splicing Database (ASD) splice patterns (SP) for TBX3 ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b SP1 :                   SP2 :     -              
About this scheme ECgene alternative splicing isoforms for TBX3 3 Ensembl transcripts including schematic representations : ENST00000257566
ENST00000349155
ENST00000361100
Expression for TBX3
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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TBX3 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for TBX3 1 / 2 / 3
10 probe-sets matching TBX3 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AAGGTATATTSOURCE GeneReport for Unigene cluster: Hs.714737 UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119 Tissue specificity : Widely expressed
Orthologs for TBX3
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for TBX3 gene from 5/10 species (see all 10
)
About this table Species with no ortholog for TBX3 ENSEMBL Gene Tree for TBX3 Paralogs for TBX3 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for TBX3 gene TBX2 2 TBX6 2
SNPs/Variants for TBX3 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for TBX3 (up to first 250kb)
Disorders & Mutations for TBX3
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 601621 disorders : 181450 UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119
Defects in TBX3 are the cause of ulnar-mammary syndrome (UMS) [MIM:181450]. UMS ischaracterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia ofnipples and apocrine glands
6 Novoseek disease relationships for TBX3 gene
About this table Human Gene Mutation Database : TBX3 Human Genome Epidemiology Navigator: TBX3 (1 document)
Medical News for TBX3 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for TBX3 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/50 PubMed articles for TBX3 gene (see all 50
): The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. (PubMed id 10330342) 1, 3, 4 Bamshad M.... Jorde L.B. (1999) Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. (PubMed id 9207801) 1, 3, 4 Bamshad M.... Jorde L.B. (1997) Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. (PubMed id 12005433) 1, 3, 4 Coll M.... Muller C.W. (2002) Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. (PubMed id 10468588) 1, 3, 4 He M.-L.... Rao Y. (1999) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 3, 4 Olsen J.V....Mann M. (2006) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. (PubMed id 8988164) 2, 3 Li Q.Y.... Brook J.D. (1997) TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines. (PubMed id 15289316) 1, 3 Fan W....Huang T. (2004) TBX3 is overexpressed in breast cancer and represses p14 ARF by interacting with histone deacetylases. (PubMed id 18245468) 1, 3 Yarosh W....Huang T. (2008) A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. (PubMed id 11689487) 1, 3 Carlson H....Hurlin P.J. (2001)
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Genome Databases showing TBX3
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing TBX3
(According to HUGE )
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Specialized Databases showing TBX3 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for TBX3 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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