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Aliases for TBX5 Gene

Aliases for TBX5 Gene

  • T-Box 5 2 3
  • T-Box Protein 5 3 4
  • T-Box Transcription Factor TBX5 3
  • HOS 3

External Ids for TBX5 Gene

Previous HGNC Symbols for TBX5 Gene

  • HOS

Previous GeneCards Identifiers for TBX5 Gene

  • GC12M113701
  • GC12M114312
  • GC12M114574
  • GC12M113203
  • GC12M113254
  • GC12M114791
  • GC12M111801

Summaries for TBX5 Gene

Entrez Gene Summary for TBX5 Gene

  • 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]

GeneCards Summary for TBX5 Gene

TBX5 (T-Box 5) is a Protein Coding gene. Diseases associated with TBX5 include holt-oram syndrome and tbx5-related holt-oram syndrome. Among its related pathways are Heart Development and Cardiac Progenitor Differentiation. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is TBX20.

UniProtKB/Swiss-Prot for TBX5 Gene

  • Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation

Gene Wiki entry for TBX5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBX5 Gene

Genomics for TBX5 Gene

Regulatory Elements for TBX5 Gene

Transcription factor binding sites by QIAGEN in the TBX5 gene promoter:

Genomic Location for TBX5 Gene

114,353,930 bp from pter
114,408,442 bp from pter
54,513 bases
Minus strand

Genomic View for TBX5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBX5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBX5 Gene

Proteins for TBX5 Gene

  • Protein details for TBX5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    T-box transcription factor TBX5
    Protein Accession:
    Secondary Accessions:
    • A6ND77
    • O15301
    • Q96TB0
    • Q9Y4I2

    Protein attributes for TBX5 Gene

    518 amino acids
    Molecular mass:
    57711 Da
    Quaternary structure:
    • Monomer. Interacts with GATA4.
    • Sequence=BAB55448.1; Type=Frameshift; Positions=360; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TBX5 Gene

    Alternative splice isoforms for TBX5 Gene


neXtProt entry for TBX5 Gene

Proteomics data for TBX5 Gene at MOPED

Post-translational modifications for TBX5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TBX5 Gene

Domains for TBX5 Gene

Gene Families for TBX5 Gene


Suggested Antigen Peptide Sequences for TBX5 Gene

Graphical View of Domain Structure for InterPro Entry



  • Q99593
  • Contains 1 T-box DNA-binding domain.
genes like me logo Genes that share domains with TBX5: view

Function for TBX5 Gene

Molecular function for TBX5 Gene

GENATLAS Biochemistry: murine T-box gene Tbx5 (T,brachyury)homolog,putative transcription factor,likely expressed in developing limb bud and heart in mice,involved in developmental regulation,pairing with TBX3,homolog to Drosophila optomotor-blind gene (omb),involved in optic lobe and wing development
UniProtKB/Swiss-Prot Function: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation

Gene Ontology (GO) - Molecular Function for TBX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 DNA binding IDA 16332960
GO:0003700 sequence-specific DNA binding transcription factor activity IMP 11431700
GO:0005515 protein binding IPI 11431700
genes like me logo Genes that share ontologies with TBX5: view
genes like me logo Genes that share phenotypes with TBX5: view

Animal Models for TBX5 Gene

MGI Knock Outs for TBX5:

miRNA for TBX5 Gene

miRTarBase miRNAs that target TBX5
Targeting motifs for TBX5 Gene
HOMER Transcription Factor Regulatory Elements motif TBX5
  • Consensus sequence: AGGTGTCA Submotif: canonical Cell Type: HL1 GeoId: GSE21529

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for TBX5 Gene

Localization for TBX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX5 Gene

Subcellular locations from

Jensen Localization Image for TBX5 Gene COMPARTMENTS Subcellular localization image for TBX5 gene
Compartment Confidence
nucleus 4
cytosol 2
cytoskeleton 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TBX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12237100
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm TAS 20299672
genes like me logo Genes that share ontologies with TBX5: view

Pathways for TBX5 Gene

genes like me logo Genes that share pathways with TBX5: view

Pathways by source for TBX5 Gene

Gene Ontology (GO) - Biological Process for TBX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002009 morphogenesis of an epithelium IEA --
GO:0003166 bundle of His development IEA --
GO:0003181 atrioventricular valve morphogenesis IEA --
GO:0003197 endocardial cushion development IEA --
GO:0003218 cardiac left ventricle formation ISS --
genes like me logo Genes that share ontologies with TBX5: view

Compounds for TBX5 Gene

(1) Novoseek inferred chemical compound relationships for TBX5 Gene

Compound -log(P) Hits PubMed IDs
retinoic acid 6.45 4
genes like me logo Genes that share compounds with TBX5: view

Transcripts for TBX5 Gene

Unigene Clusters for TBX5 Gene

T-box 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBX5 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
SP1: - -
SP2: -
SP3: - - - -

Relevant External Links for TBX5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TBX5 Gene

mRNA expression in normal human tissues for TBX5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBX5 Gene

This gene is overexpressed in Heart - Atrial Appendage (26.7), Heart - Left Ventricle (7.4), and Lung (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TBX5 Gene

SOURCE GeneReport for Unigene cluster for TBX5 Gene Hs.381715

genes like me logo Genes that share expressions with TBX5: view

No data available for mRNA Expression by UniProt/SwissProt for TBX5 Gene

Orthologs for TBX5 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TBX5 35
  • 99.23 (n)
  • 99.81 (a)
TBX5 36
  • 100 (a)
(Bos Taurus)
Mammalia TBX5 35
  • 91.25 (n)
  • 97.68 (a)
TBX5 36
  • 97 (a)
(Canis familiaris)
Mammalia TBX5 35
  • 90.54 (n)
  • 96.53 (a)
TBX5 36
  • 97 (a)
(Mus musculus)
Mammalia Tbx5 35
  • 87.13 (n)
  • 96.14 (a)
Tbx5 16
Tbx5 36
  • 96 (a)
(Monodelphis domestica)
Mammalia TBX5 36
  • 89 (a)
(Rattus norvegicus)
Mammalia Tbx5 35
  • 87.04 (n)
  • 95.94 (a)
(Gallus gallus)
Aves TBX5 35
  • 79.86 (n)
  • 89 (a)
TBX5 36
  • 74 (a)
(Anolis carolinensis)
Reptilia TBX5 36
  • 83 (a)
African clawed frog
(Xenopus laevis)
Amphibia tbx5-B 35
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx5 35
  • 69.71 (n)
  • 75.92 (a)
(Danio rerio)
Actinopterygii tbx5 35
tbx5a 35
  • 70.91 (n)
  • 74.78 (a)
tbx5a 36
  • 73 (a)
fruit fly
(Drosophila melanogaster)
Insecta Doc1 36
  • 32 (a)
Doc2 36
  • 27 (a)
Doc3 36
  • 29 (a)
Doc3 37
  • 53 (a)
Doc2 37
  • 55 (a)
Doc1 37
  • 46 (a)
(Caenorhabditis elegans)
Secernentea tbx-9 37
  • 40 (a)
tbx-8 37
  • 40 (a)
mab-9 37
  • 47 (a)
Species with no ortholog for TBX5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBX5 Gene

Gene Tree for TBX5 (if available)
Gene Tree for TBX5 (if available)

Paralogs for TBX5 Gene

Paralogs for TBX5 Gene

Selected SIMAP similar genes for TBX5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TBX5: view

Variants for TBX5 Gene

Sequence variations from dbSNP and Humsavar for TBX5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs736560 -- 114,405,449(+) CTCCG(A/C)CAGCC intron-variant
rs883079 -- 114,355,435(-) CCCAC(A/G)GACAA utr-variant-3-prime
rs1048078 -- 114,355,670(-) CCTCA(A/G)ACTGG synonymous-codon, reference
rs1247971 -- 114,387,915(-) aggct(A/G)cagtg intron-variant
rs1247972 -- 114,387,115(-) ttttg(G/T)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBX5 Gene

Variant ID Type Subtype PubMed ID
nsv832517 CNV Gain 17160897
nsv832518 CNV Loss 17160897
nsv455720 CNV Loss 19166990

Relevant External Links for TBX5 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX5 Gene

Disorders for TBX5 Gene

(1) OMIM Diseases for TBX5 Gene (601620)


  • Holt-Oram syndrome (HOS) [MIM:142900]: Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. {ECO:0000269 PubMed:10077612, ECO:0000269 PubMed:10842287, ECO:0000269 PubMed:8988165}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for TBX5 Gene

(17) Novoseek inferred disease relationships for TBX5 Gene

Disease -log(P) Hits PubMed IDs
holt-oram syndrome 98.6 70
holt oram syndrome 91.2 2
limb malformation 86.7 4
ulnar-mammary syndrome 86.1 3
okihiro syndrome 77.4 1

Relevant External Links for TBX5

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with TBX5: view

Publications for TBX5 Gene

  1. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. (PMID: 10077612) Basson C.T. … Seidman C.E. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 4 23 48
  2. Mutations in human TBX5 cause limb and cardiac malformation in Holt- Oram syndrome. (PMID: 8988165) Basson C.T. … Seidman C.E. (Nat. Genet. 1997) 2 3 4 23
  3. Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome. (PMID: 10842287) Yang J. … Zhou X. (Am. J. Med. Genet. 2000) 3 4 23
  4. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. (PMID: 16183809) McDermott D.A. … Basson C.T. (Pediatr. Res. 2005) 3 23 48
  5. Novel TBX5 mutations in patients with Holt-Oram syndrome. (PMID: 17534187) Debeer P. … Frijns J.P. (Clin. Orthop. Relat. Res. 2007) 3 23 48

Products for TBX5 Gene

  • Addgene plasmids for TBX5

Sources for TBX5 Gene

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