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TBX5 T-box 5 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000192 Homo sapiens T-box 5 (TBX5), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_080717 Homo sapiens T-box 5 (TBX5), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_181486 Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
XM_006719582 PREDICTED: Homo sapiens T-box 5 (TBX5), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $549.00 14

*Business Day

Related Services

Gene Symbol TBX5
Entrez Gene ID 6910
Full Name T-box 5
Synonyms HOS
General protein information
Preferred Names
T-box transcription factor TBX5
Names
T-box transcription factor TBX5
T-box protein 5
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12q24.1

Summary This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].
Disorder

MIM: 601620

Holt-Oram syndrome, 142900 (3)

mRNA Protein Product Sequence Price Select
NM_000192, 31652233 NP_000183, 18201892 T-box transcription factor TBX5 isoform 1 ORF Sequence $360.00
NM_080717, 31652234 NP_542448, 18201894 T-box transcription factor TBX5 isoform 3 ORF Sequence $360.00
NM_181486, 387527994 NP_852259, 31652232 T-box transcription factor TBX5 isoform 1 ORF Sequence $360.00
XM_006719582, 578824185 XP_006719645, 578824186 T-box transcription factor TBX5 isoform X1 ORF Sequence $400.00
WikiPathways
WP1591Heart Development
WP2406Cardiac Progenitor Differentiation
Reactome
REACT_12627Generic Transcription Pathway
REACT_71Gene Expression
REACT_118713YAP1- and WWTR1 (TAZ)-stimulated gene expression
Homo sapiens (human)TBX5NP_000183.2
Pan troglodytes (chimpanzee)TBX5XP_001154140.2
Macaca mulatta (Rhesus monkey)TBX5XP_001111737.1
Canis lupus familiaris (dog)TBX5XP_005636327.1
Bos taurus (cattle)TBX5NP_001179678.1
Mus musculus (house mouse)Tbx5NP_035667.1
Rattus norvegicus (Norway rat)Tbx5NP_001009964.1
Gallus gallus (chicken)TBX5NP_989504.1
Danio rerio (zebrafish)tbx5aNP_570990.1
Xenopus (Silurana) tropicalis (western clawed frog)tbx5NP_001185697.1
Process
IDNameEvidence
GO:0002009morphogenesis of an epitheliumIEA
GO:0003166bundle of His developmentIEA
GO:0003181atrioventricular valve morphogenesisIEA
GO:0003197endocardial cushion developmentIEA
GO:0003218cardiac left ventricle formationISS
GO:0003229ventricular cardiac muscle tissue developmentIEA
GO:0003281ventricular septum developmentISS
GO:0006367transcription initiation from RNA polymerase II promoterTAS
GO:0007267cell-cell signalingIDA
GO:0007389pattern specification processIEA
GO:0007507heart developmentIDA
GO:0007507heart developmentIMP
GO:0008285negative regulation of cell proliferationIDA
GO:0010467gene expressionTAS
GO:0010719negative regulation of epithelial to mesenchymal transitionTAS
GO:0030262apoptotic nuclear changesIDA
GO:0030324lung developmentIEA
GO:0030326embryonic limb morphogenesisIMP
GO:0030336negative regulation of cell migrationIDA
GO:0035115embryonic forelimb morphogenesisIMP
GO:0035136forelimb morphogenesisIMP
GO:0045893positive regulation of transcription, DNA-templatedIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIMP
GO:0051891positive regulation of cardioblast differentiationIDA
GO:0055007cardiac muscle cell differentiationIEA
GO:0060039pericardium developmentIDA
GO:0060044negative regulation of cardiac muscle cell proliferationIDA
GO:0060045positive regulation of cardiac muscle cell proliferationIEA
GO:0060413atrial septum morphogenesisIEA
GO:0060980cell migration involved in coronary vasculogenesisTAS
GO:0072513positive regulation of secondary heart field cardioblast proliferationIEA
GO:1900117regulation of execution phase of apoptosisIC
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005654nucleoplasmTAS
GO:0005667transcription factor complexIEA
GO:0005737cytoplasmIDA
GO:0005737cytoplasmTAS
Function
IDNameEvidence
GO:0000977RNA polymerase II regulatory region sequence-specific DNA bindingIEA
GO:0001228RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionIEA
GO:0003677DNA bindingIDA
GO:0003700sequence-specific DNA binding transcription factor activityIDA
GO:0003700sequence-specific DNA binding transcription factor activityIMP
GO:0005515protein bindingIPI
GO:0008134transcription factor bindingIPI
GO:0043565sequence-specific DNA bindingIDA
GeneCards TBX5
UniProt Q99593
Vega OTTHUMG00000166191
MIM 601620
Ensembl ENSG00000089225
HGNC 11604
HPRD 03372

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the TBX5 gene?

The TBX5 gene provides instructions for making a protein called T-box 5 that plays an important role in the formation of tissues and organs during embryonic development. This protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the T-box 5 protein is called a transcription factor.

During embryonic development, the T-box 5 protein turns on (activates) genes involved in the normal development of the hands and arms (upper limbs). The T-box 5 protein also activates genes that play an important role in the growth and development of the heart. This protein appears to be particularly important for the formation of the wall (septum) that separates the right and left sides of the heart. The T-box 5 protein is also critical to the formation of the electrical system that coordinates contractions of the heart chambers.

Interactant

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