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Aliases for TBX5 Gene

Aliases for TBX5 Gene

  • T-Box 5 2 3 5
  • T-Box Transcription Factor TBX5 3 4
  • T-Box Protein 5 3 4
  • 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 Ventricular Septal Defect. Among its related pathways are Cardiac conduction and Cardiac Progenitor Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is TBX4.

UniProtKB/Swiss-Prot for TBX5 Gene

  • DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:29174768, PubMed:26917986, PubMed:27035640, PubMed:8988164). Binds to the core DNA motif of NPPA promoter (PubMed:26926761).

Gene Wiki entry for TBX5 Gene

Additional gene information for TBX5 Gene

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

Genomics for TBX5 Gene

GeneHancer (GH) Regulatory Elements for TBX5 Gene

Promoters and enhancers for TBX5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J114395 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 615.1 +3.1 3141 20.3 SP1 PRDM1 POLR2A NRF1 CTCF EZH2 RFX1 USF1 ZSCAN29 ZNF217 TBX5 TBX5-AS1 GC12M114409 GC12M114376 LOC105369998
GH12J114447 Promoter/Enhancer 1.1 VISTA EPDnew dbSUPER 600.3 -39.6 -39577 1.2 NRF1 EZH2 CBFA2T3 LOC105369998 GC12M114445 TBX5 GC12M114444
GH12J114378 Enhancer 0.4 FANTOM5 dbSUPER 35.8 +30.0 29979 0.3 GC12M114376 TBX5 GC12P114342
GH12J114438 Enhancer 0.6 dbSUPER 11.8 -33.9 -33900 6.8 EGR1 CEBPG ZNF512 EZH2 ZFHX2 ZNF366 CEBPB HDAC2 CBFA2T3 TBX5-AS1 TBX5 GC12M114444 LOC105369998 GC12M114445 GC12M114409
GH12J114316 Enhancer 0.6 Ensembl ENCODE 4.9 +92.2 92241 0.8 FOS JUND TBX5 GC12M114313 LINC02459
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBX5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBX5 gene promoter:
  • STAT1

Genomic Locations for TBX5 Gene

Genomic Locations for TBX5 Gene
chr12:114,353,930-114,408,442
(GRCh38/hg38)
Size:
54,513 bases
Orientation:
Minus strand
chr12:114,791,735-114,846,247
(GRCh37/hg19)
Size:
54,513 bases
Orientation:
Minus strand

Genomic View for TBX5 Gene

Genes around TBX5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBX5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q99593-TBX5_HUMAN
    Recommended name:
    T-box transcription factor TBX5
    Protein Accession:
    Q99593
    Secondary Accessions:
    • A6ND77
    • O15301
    • Q96TB0
    • Q9Y4I2

    Protein attributes for TBX5 Gene

    Size:
    518 amino acids
    Molecular mass:
    57711 Da
    Quaternary structure:
    • Monomer (PubMed:20450920). Homodimer (via the T-box); binds DNA as homodimer (PubMed:26926761). Interacts (via the T-box) with NKX2-5 (via the homeobox); this complex binds DNA (PubMed:26926761). Interacts with GATA4 (PubMed:24000169). Interacts with KAT2A and KAT2B (PubMed:29174768).
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for TBX5 Gene

Post-translational modifications for TBX5 Gene

  • Acetylation at Lys-339 by KAT2A and KAT2B promotes nuclear retention.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX5 Gene

No data available for DME Specific Peptides for TBX5 Gene

Domains & Families for TBX5 Gene

Gene Families for TBX5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for TBX5 Gene

GenScript: Design optimal peptide antigens:
  • Transcription factor T-box 5 (Q96TB0_HUMAN)
  • T-box transcription factor TBX5 (TBX5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99593

UniProtKB/Swiss-Prot:

TBX5_HUMAN :
  • The T-Box domain binds to double-stranded DNA (PubMed:26926761).
Domain:
  • The T-Box domain binds to double-stranded DNA (PubMed:26926761).
genes like me logo Genes that share domains with TBX5: view

Function for TBX5 Gene

Molecular function for TBX5 Gene

UniProtKB/Swiss-Prot Function:
DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:29174768, PubMed:26917986, PubMed:27035640, PubMed:8988164). Binds to the core DNA motif of NPPA promoter (PubMed:26926761).
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

Phenotypes From GWAS Catalog for TBX5 Gene

Gene Ontology (GO) - Molecular Function for TBX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 26926761
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IDA,NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IDA,IEA 16332960
GO:0003700 DNA-binding transcription factor activity IMP 11431700
genes like me logo Genes that share ontologies with TBX5: view
genes like me logo Genes that share phenotypes with TBX5: view

Human Phenotype Ontology for TBX5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBX5 Gene

MGI Knock Outs for TBX5:
  • Tbx5 Tbx5<tm1.1Jse>

Animal Model Products

CRISPR Products

miRNA for TBX5 Gene

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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBX5

Clone Products

  • Applied Biological Materials (abm): Clones for TBX5 - Now 50% OFF >
  • * TBX5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TBX5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for TBX5

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

Localization for TBX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX5 Gene

Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and the nucleus. Acetylation at Lys-339 promotes nuclear retention. {ECO:0000269 PubMed:29174768}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBX5 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
extracellular 1
cytosol 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

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:0005737 cytoplasm TAS 20299672
GO:0032991 protein-containing complex IDA 26926761
GO:0032993 protein-DNA complex IDA 26926761
genes like me logo Genes that share ontologies with TBX5: view

Pathways & Interactions for TBX5 Gene

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

SIGNOR curated interactions for TBX5 Gene

Activates:
Inactivates:
Is activated by:

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

Drugs & Compounds for TBX5 Gene

(1) Additional Compounds for TBX5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBX5

Clone Products

  • Applied Biological Materials (abm): Clones for TBX5 - Now 50% OFF >
  • * TBX5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TBX5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for TBX5

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: - - - -
SP4:

Relevant External Links for TBX5 Gene

GeneLoc Exon Structure for
TBX5
ECgene alternative splicing isoforms for
TBX5

Expression for TBX5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x26.7), Heart - Left Ventricle (x7.4), and Lung (x5.0).

Protein differential expression in normal tissues from HIPED for TBX5 Gene

This gene is overexpressed in Fetal heart (68.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TBX5 Gene



Protein tissue co-expression partners for TBX5 Gene

NURSA nuclear receptor signaling pathways regulating expression of TBX5 Gene:

TBX5

SOURCE GeneReport for Unigene cluster for TBX5 Gene:

Hs.381715

Evidence on tissue expression from TISSUES for TBX5 Gene

  • Lung(4.3)
  • Spleen(4)
  • Heart(3.5)
  • Muscle(3.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBX5 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • respiratory
  • skeleton
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • upper limb
  • wrist
General:
  • blood vessel
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns 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
chimpanzee
(Pan troglodytes)
Mammalia TBX5 35 34
  • 99.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TBX5 35 34
  • 91.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TBX5 35 34
  • 90.54 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBX5 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbx5 17 35 34
  • 87.13 (n)
rat
(Rattus norvegicus)
Mammalia Tbx5 34
  • 87.04 (n)
chicken
(Gallus gallus)
Aves TBX5 35 34
  • 79.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBX5 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx5 34
  • 69.71 (n)
African clawed frog
(Xenopus laevis)
Amphibia tbx5-B 34
zebrafish
(Danio rerio)
Actinopterygii tbx5a 35 34
  • 70.91 (n)
OneToOne
tbx5 34
fruit fly
(Drosophila melanogaster)
Insecta Doc2 36 35
  • 55 (a)
Doc3 36 35
  • 53 (a)
Doc1 36 35
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea mab-9 36
  • 47 (a)
tbx-9 36
  • 40 (a)
tbx-8 36
  • 40 (a)
Species where no ortholog for TBX5 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for TBX5 (if available)
TreeFam:
Gene Tree for TBX5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TBX5: view image

Paralogs for TBX5 Gene

(10) SIMAP similar genes for TBX5 Gene using alignment to 1 proteins:

  • TBX5_HUMAN
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 Variation AA Info Type
rs104894377 pathogenic, Holt-Oram syndrome 114,401,863(-) C/A coding_sequence_variant, stop_gained
rs104894378 pathogenic, likely-pathogenic, not provided, Holt-Oram syndrome, Aortic valve disease 2, Holt-Oram syndrome (HOS) [MIM:142900] 114,385,521(-) C/G/T coding_sequence_variant, missense_variant
rs104894379 pathogenic, Holt-Oram syndrome 114,398,675(-) G/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs104894381 pathogenic, Holt-Oram syndrome, Holt-Oram syndrome (HOS) [MIM:142900] 114,401,830(-) C/T coding_sequence_variant, missense_variant
rs104894382 pathogenic, Holt-Oram syndrome, Heart, malformation of, Aortic valve disease 2, Holt-Oram syndrome (HOS) [MIM:142900] 114,385,522(-) G/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv455720 CNV loss 19166990
nsv560292 CNV loss 21841781
nsv832517 CNV gain 17160897
nsv832518 CNV loss 17160897
nsv952486 CNV deletion 24416366

Variation tolerance for TBX5 Gene

Residual Variation Intolerance Score: 42.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.42; 42.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBX5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBX5
Human Gene Mutation Database (HGMD)
TBX5

SNP Genotyping and Copy Number Assay Products

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

Disorders for TBX5 Gene

MalaCards: The human disease database

(30) MalaCards diseases for TBX5 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
holt-oram syndrome
  • hos
ventricular septal defect
  • interventricular septal defect
patent foramen ovale
  • atrial septal defect within oval fossa
atrial septal defect 1
  • asd1
heart, malformation of
- elite association - COSMIC cancer census association via MalaCards
Search TBX5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBX5_HUMAN
  • 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:12818525, ECO:0000269 PubMed:15735645, ECO:0000269 PubMed:20450920, ECO:0000269 PubMed:8988164, ECO:0000269 PubMed:8988165}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in TBX5 are associated with susceptibility to heart disorders including dilated cardiomyopathy (DCM) and atrial fibrillation (AF). DCM is characterized by ventricular and impaired systolic function, resulting in heart failure and arrhythmia. Patient are at risk of premature death. AF is a common sustained cardiac rhythm disturbance. AF is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:25725155, ECO:0000269 PubMed:25963046, ECO:0000269 PubMed:26917986, ECO:0000269 PubMed:27035640}.

Additional Disease Information for TBX5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TBX5: view

No data available for Genatlas for TBX5 Gene

Publications for TBX5 Gene

  1. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. (PMID: 10077612) Basson CT … Seidman CE (Proceedings of the National Academy of Sciences of the United States of America 1999) 3 4 23 45 58
  2. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. (PMID: 8988165) Basson CT … Seidman CE (Nature genetics 1997) 2 3 4 23 58
  3. Association of TBX5 gene polymorphism with ventricular septal defect in the Chinese Han population. (PMID: 19187613) Liu CX … Li ZZ (Chinese medical journal 2009) 3 23 45 58
  4. Novel TBX5 mutations in patients with Holt-Oram syndrome. (PMID: 17534187) Debeer P … Frijns JP (Clinical orthopaedics and related research 2007) 3 23 45 58
  5. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. (PMID: 16183809) McDermott DA … Basson CT (Pediatric research 2005) 3 23 45 58

Products for TBX5 Gene

Sources for TBX5 Gene

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