TBX5 (gene)

TBX5
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2X6U, 2X6V, 4S0H, 5BQD
Identifiers
Aliases	TBX5, HOS, T-box 5, T-box transcription factor 5
External IDs	OMIM: 601620; MGI: 102541; HomoloGene: 160; GeneCards: TBX5; OMA:TBX5 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	114,408,442 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	120,023,284 bp
RNA expression pattern
	Top expressed in
	tendon of biceps brachii; ; cardiac muscle tissue of right atrium; ; buccal mucosa cell; ; right auricle; ; lower lobe of lung; ; right ventricle; ; myocardium of left ventricle; ; visceral pleura; ; right lung; ; oocyte;
	Top expressed in
	Cardiac muscle tissue of myocardium; ; vena cava; ; sinus venosus; ; genital tubercle; ; primordial ventricle; ; human penis; ; inferior vena cava; ; urethra; ; superior vena cava; ; interatrial septum;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	sequence-specific DNA binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; transcription factor binding; protein binding; DNA-binding transcription factor activity; DNA binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleoplasm; nucleus; protein-containing complex; protein-DNA complex; cytoplasm;
Biological process	pattern specification process; forelimb morphogenesis; ventricular cardiac muscle tissue development; regulation of transcription, DNA-templated; bundle of His development; lung development; endocardial cushion development; cardiac muscle cell differentiation; cell-cell signaling; transcription, DNA-templated; morphogenesis of an epithelium; atrial septum morphogenesis; multicellular organism development; negative regulation of cell migration; positive regulation of cardiac muscle cell proliferation; atrioventricular valve morphogenesis; cell migration involved in coronary vasculogenesis; embryonic limb morphogenesis; pericardium development; positive regulation of cardioblast differentiation; positive regulation of secondary heart field cardioblast proliferation; transcription initiation from RNA polymerase II promoter; negative regulation of cardiac muscle cell proliferation; atrial septum development; embryonic forelimb morphogenesis; negative regulation of epithelial to mesenchymal transition; negative regulation of cell population proliferation; cardiac left ventricle formation; ventricular septum development; heart development; positive regulation of transcription, DNA-templated; positive regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	6910
	21388
	ENSG00000089225
	ENSMUSG00000018263
	Q99593
	P70326
	NM_181486; NM_000192; NM_080717; NM_080718
	NM_011537
	NP_000183; NP_542448; NP_852259
	NP_035667
	Wikidata
View/Edit Human	View/Edit Mouse

T-box transcription factor TBX5, (T-box protein 5) is a protein that in humans is encoded by the TBX5 gene.^[5]^[6]^[7] Abnormalities in the TBX5 gene can result in altered limb development, Holt-Oram syndrome, Tetra-amelia syndrome, and cardiac and skeletal problems.

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^{[clarification needed]} to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12.

TBX5 is located on the long arm of chromosome 12.^[8] TBX5 produces a protein called T-box protein 5 that acts as a transcription factor.^[9] TBX5 is involved with forelimb and heart development.^[10] This gene impacts the early development of the forelimb by triggering fibroblast growth factor, FGF10.^[11]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000089225 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000018263 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, et al. (January 1997). "Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome". Nature Genetics. 15 (1): 30–35. doi:10.1038/ng0197-30. PMID 8988165. S2CID 30763654.
^ Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD (April 1994). "Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q". Nature Genetics. 6 (4): 401–404. doi:10.1038/ng0494-401. PMID 8054982. S2CID 30213.
^ "Entrez Gene: TBX5 T-box 5".
^ Patel C, Silcock L, McMullan D, Brueton L, Cox H (August 2012). "TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype". European Journal of Human Genetics. 20 (8): 863–869. doi:10.1038/ejhg.2012.16. PMC 3400730. PMID 22333898.
^ Jhang WK, Lee BH, Kim GH, Lee JO, Yoo HW (August 2015). "Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations". Cardiology in the Young. 25 (6): 1093–1098. doi:10.1017/s1047951114001656. PMID 25216260. S2CID 43846874.
^ Cite error: The named reference Steimle_2017 was invoked but never defined (see the help page).
^ Nishimoto S, Wilde SM, Wood S, Logan MP (August 2015). "RA Acts in a Coherent Feed-Forward Mechanism with Tbx5 to Control Limb Bud Induction and Initiation". Cell Reports. 12 (5): 879–891. doi:10.1016/j.celrep.2015.06.068. PMC 4553633. PMID 26212321.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000089225 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000018263 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8988165-5] Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, et al. (January 1997). "Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome". Nature Genetics. 15 (1): 30–35. doi:10.1038/ng0197-30. PMID 8988165. S2CID 30763654.

[pmid8054982-6] Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD (April 1994). "Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q". Nature Genetics. 6 (4): 401–404. doi:10.1038/ng0494-401. PMID 8054982. S2CID 30213.

[entrez-7] "Entrez Gene: TBX5 T-box 5".

[Patel_C_2012-8] Patel C, Silcock L, McMullan D, Brueton L, Cox H (August 2012). "TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype". European Journal of Human Genetics. 20 (8): 863–869. doi:10.1038/ejhg.2012.16. PMC 3400730. PMID 22333898.

[ReferenceA-9] Jhang WK, Lee BH, Kim GH, Lee JO, Yoo HW (August 2015). "Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations". Cardiology in the Young. 25 (6): 1093–1098. doi:10.1017/s1047951114001656. PMID 25216260. S2CID 43846874.

[Steimle_2017-10] Cite error: The named reference Steimle_2017 was invoked but never defined (see the help page).

[11] Nishimoto S, Wilde SM, Wood S, Logan MP (August 2015). "RA Acts in a Coherent Feed-Forward Mechanism with Tbx5 to Control Limb Bud Induction and Initiation". Cell Reports. 12 (5): 879–891. doi:10.1016/j.celrep.2015.06.068. PMC 4553633. PMID 26212321.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]