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Aliases & Descriptions for TBX5
(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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Descriptions T-box 5 2 T-box protein 5 3 T-box transcription factor TBX5 2
Search outside databases for aliases for TBX5 genePrevious GC identifers: GC12M113701 GC12M114312 GC12M114574 GC12M113203
Summaries for TBX5 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for TBX5 : 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 gene is closely linked to related family member T-box 3 (ulnarmammary syndrome) on human chromosome 12. The encoded protein may play a role in heart developmentand specification of limb identity. Mutations in this gene have been associated with Holt-Oramsyndrome, a developmental disorder affecting the heart and upper limbs. Several transcriptvariants encoding different isoforms have been described for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: TBX5_HUMAN, Q99593 Function : Involved in the transcriptional regulation of genes required for mesodermdifferentiation. Probably plays a role in limb pattern formation
Gene Wiki entry for TBX5
Genomic Location for TBX5
(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 TBX5 gene Entrez Gene cytogenetic band: 12q24.1 Ensembl cytogenetic band: 12q24.21 HGNC cytogenetic band: 12q24.1 TBX5 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 GC12M113254:
(about GC identifiers )
Start:
113,276,118 bp from pter
End:
113,330,630 bp from pter
Size:
54,513 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000012.10 NT_009775.16 Proteins for TBX5
(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: TBX5_HUMAN, Q99593 (See
protein sequence )Recommended Name: T-box transcription factor TBX5 Size : 518 amino acids; 57711 Da
Subcellular location : Nucleus (Potential)
Secondary accessions : O15301 Q9Y4I2Alternative splicing : 2 isoforms : Q99593-1 Q99593-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (4 alternative transcripts):
NP_000183.2 NP_542448.1 NP_542449.1 NP_852259.1 ENSEMBL proteins: ENSP00000309913 ENSP00000384152 ENSP00000337723 ENSP00000327158 ENSP00000376342 ENSP00000386124 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for TBX5: Assays for TBX5:
Protein
Domains/ Families for TBX5(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 Q99593 ProtoNet protein and cluster: Q99593
2 Blocks protein families : IPB001699 Transcription factor IPB002070 Brachyury protein family signature UniProtKB/Swiss-Prot: TBX5_HUMAN, Q99593 Similarity : Contains 1 T-box DNA-binding domain
Gene Function for TBX5
(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
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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 4 ): NM_000192 Applied Biosystems Silencer ® siRNAs for TBX5 Sigma-Aldrich siRNA for TBX5 Sigma-Aldrich shRNA Panels and shRNA for TBX5 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_000192                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_000192                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_000192  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000192 UniProtKB/Swiss-Prot: TBX5_HUMAN, Q99593 Function : Involved in the transcriptional regulation of genes required for mesodermdifferentiation. Probably plays a role in limb pattern formation
Genatlas biochemistry entry for TBX5 :murine T-box gene Tbx5 (T,brachyury)homolog,putative transcription factor,likely expressed indeveloping limb bud and heart in mice,involved in developmental regulation,pairing withTBX3,homolog to Drosophila optomotor-blind gene (omb),involved in optic lobe and wing development
8 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Tbx5) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for TBX5
(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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1 Sigma-Aldrich "Your Favorite Gene" Pathway for TBX5 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for TBX5 5/36 Interacting proteins for TBX5 (Q99593 1 ENSP00000309913 3 ) via UniProtKB, MINT, and/or STRING (see all 36
)About this table 5/13 Gene Ontology (GO) biological process terms (links to tree view) (see all 13
):
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Drugs & Compounds for TBX5 (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 TBX5
Transcripts for TBX5(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 ,
RNAi Products from Invitrogen ,
Millipore , and/or
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shRNA from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_000192 Sigma-Aldrich siRNA for TBX5 Sigma-Aldrich shRNA Panels and shRNA for TBX5 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000192 NM_080717 NM_080718 NM_181486
REFSEQ mRNAs for TBX5 gene (4 alternative transcripts): NM_000192.3 NM_080717.2 NM_080718.1 NM_181486.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000192 NM_080717 NM_080718 NM_181486
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_000192                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_000192                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_000192  
Additional cDNA sequence: AB051068.1 AF086146.1 AF221714.1 AK290611.1 AK300251.1 BC011028.1 BC027942.1 U80987.1 U89353.1
4 DOTS entries : DT.303668 DT.205719 DT.91647764 DT.92052463
24/38 AceView cDNA sequences (see all 38
):NM_080717 AF221714 U80987 NM_181486 AB051068 NM_000192 U89353 NM_080718 CB988702 AA909517 BF105934 BX378377 AA247888 AI822068 BX089920 BM792230 BI769267 AF086146 BU681707 CB960757 BC011028 AA909518 AL691742 AA906435
highest scoring ESTs for TBX5 :AA247888 AA909517 AB051068 AF221714 BC011028 U80987 Y09445 AA358451 AA906435 AA909518
Unigene Cluster for TBX5: T-box 5 Hs.381715 [show with all ESTs ] Unigene Representative Sequence: NM_000192 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for TBX5 ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 SP1 :     -                   -     SP2 :                       -     SP3 :     -   -   -               -     SP4 :                          
About this scheme ECgene alternative splicing isoforms for TBX5 6 Ensembl transcripts including schematic representations : ENST00000310346
ENST00000405440
ENST00000349716
ENST00000317232
ENST00000392559
ENST00000408924
Expression for TBX5
(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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TBX5 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for TBX5 1 / 2 / 3
12 probe-sets matching TBX5 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AAATGAAACCSOURCE GeneReport for Unigene cluster: Hs.381715 Expression variation in blood from EXPOLDB for TBX5
Orthologs for TBX5
(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 TBX5 gene from 5/10 species (see all 10
)
About this table Species with no ortholog for TBX5 ENSEMBL Gene Tree for TBX5 Paralogs for TBX5 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for TBX5 gene TBX4 2 MGA 2
SNPs/Variants for TBX5 (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 TBX5 (up to first 250kb)
Disorders & Mutations for TBX5
(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: 601620 disorders : 142900 UniProtKB/Swiss-Prot: TBX5_HUMAN, Q99593
Defects in TBX5 are the cause of Holt-Oram syndrome (HOS) [MIM:142900]. HOS is adevelopmental disorder affecting the heart and upper limbs. It is characterized by thumb anomalyand atrial septal defects
10/17 Novoseek disease relationships for TBX5 gene (see all 17
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
holt-oram syndrome
98.64
72
10373308 (3), 8988165 (3), 17534187 (3), 16792966 (3) (see all 46 )
holt oram syndrome
91.53
2
10745699 (1), 12668595 (1)
ulnar-mammary syndrome
86.71
3
12005433 (1), 16892408 (1), 12668595 (1)
limb malformation
86.62
4
12789647 (2), 12436037 (1), 16917909 (1)
okihiro syndrome
78.50
1
12843316 (1)
heart defects congenital
76.50
14
16258075 (1), 10373308 (1), 12736217 (1), 15221798 (1) (see all 13 )
congenital heart disease
69.07
16
15639924 (4), 15096952 (2), 17668378 (1), 15221798 (1) (see all 8 )
septal defect
63.47
5
12845333 (3), 10373308 (1)
digeorge syndrome
56.15
3
12005433 (1), 12668595 (1), 15548583 (1)
atrioventricular septal defect
53.54
2
10373308 (1), 15221798 (1)
About this table GeneTests: TBX5 TBX5-Related Holt-Oram Syndrome Human Gene Mutation Database : TBX5 Genetic Association Database: TBX5 Human Genome Epidemiology Navigator: TBX5 (6 documents)
Medical News for TBX5 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for TBX5 (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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10/120 PubMed articles for TBX5 gene (see all 120
): Mutations in human TBX5 cause limb and cardiac malformation in Holt- Oram syndrome. (PubMed id 8988165) 1, 2, 3, 4 Basson C.T....Seidman C.E. (1997) Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. (PubMed id 10077612) 1, 3, 4, 6 Basson C.T.... Seidman C.E. (1999) TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. (PubMed id 16183809) 1, 3, 6 McDermott D.A....Basson C.T. (2005) Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome. (PubMed id 10842287) 1, 3, 4 Yang J.... Zhou X. (2000) Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. (PubMed id 8988164) 1, 3, 4 Li Q.Y.... Brook J.D. (1997) 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) The mutation spectrum in Holt-Oram syndrome. (PubMed id 11183182) 3, 4 Cross S.J.... Gardiner C.A. (2000) Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. (PubMed id 8054982) 2, 3 Terrett J.A....Brook J.D. (1994) Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. (PubMed id 12499378) 1, 3 Fan C....Wang Q. (2003) Identification of the TBX5 transactivating domain and the nuclear localization signal. (PubMed id 15087119) 1, 3 Zaragoza M.V....Huang T. (2004)
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Genome Databases showing TBX5
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing TBX5
(According to HUGE )
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Specialized Databases showing TBX5 (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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Name Description
GeneReviews http://www.genetests.org/query?gene=TBX5
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-- Services for TBX5 (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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