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Aliases for TBX3 Gene

Aliases for TBX3 Gene

  • T-Box 3 2 3 5
  • T-Box Protein 3 3 4
  • Bladder Cancer Related Protein XHL 3
  • Ulnar Mammary Syndrome 2
  • TBX3-ISO 3
  • XHL 3
  • UMS 3

External Ids for TBX3 Gene

Previous HGNC Symbols for TBX3 Gene

  • UMS

Previous GeneCards Identifiers for TBX3 Gene

  • GC12M114019
  • GC12M114628
  • GC12M114890
  • GC12M113520
  • GC12M113570
  • GC12M115108
  • GC12M112116

Summaries for TBX3 Gene

Entrez Gene Summary for TBX3 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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for TBX3 Gene

TBX3 (T-Box 3) is a Protein Coding gene. Diseases associated with TBX3 include ulnar-mammary syndrome and holt-oram syndrome. Among its related pathways are Signaling pathways regulating pluripotency of stem cells. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is TBX20.

UniProtKB/Swiss-Prot for TBX3 Gene

  • Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence.

Gene Wiki entry for TBX3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBX3 Gene

Genomics for TBX3 Gene

Regulatory Elements for TBX3 Gene

Promoters for TBX3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBX3 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBX3 Gene

Chromosome:
12
Start:
114,670,254 bp from pter
End:
114,684,164 bp from pter
Size:
13,911 bases
Orientation:
Minus strand

Genomic View for TBX3 Gene

Genes around TBX3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBX3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBX3 Gene

Proteins for TBX3 Gene

  • Protein details for TBX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15119-TBX3_HUMAN
    Recommended name:
    T-box transcription factor TBX3
    Protein Accession:
    O15119
    Secondary Accessions:
    • Q8TB20
    • Q9UKF8

    Protein attributes for TBX3 Gene

    Size:
    743 amino acids
    Molecular mass:
    79389 Da
    Quaternary structure:
    • Interacts with PML (isoform PML-4).

    Three dimensional structures from OCA and Proteopedia for TBX3 Gene

    Alternative splice isoforms for TBX3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBX3 Gene

Proteomics data for TBX3 Gene at MOPED

Post-translational modifications for TBX3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX3 Gene

Antibody Products

No data available for DME Specific Peptides for TBX3 Gene

Domains & Families for TBX3 Gene

Gene Families for TBX3 Gene

Protein Domains for TBX3 Gene

Suggested Antigen Peptide Sequences for TBX3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15119

UniProtKB/Swiss-Prot:

TBX3_HUMAN :
  • Contains 1 T-box DNA-binding domain.
Domain:
  • Contains 1 T-box DNA-binding domain.
genes like me logo Genes that share domains with TBX3: view

Function for TBX3 Gene

Molecular function for TBX3 Gene

GENATLAS Biochemistry:
murine T-box gene Tbx3 (T,brachyury)homolog,putative transcription factor,pairing with TBX5,homolog to Drosophila optomotor-blind gene (omb),involved in optic lobe and wing development,involved in developmental regulation,expressed in anterior and posterior mouse limb buds,widely expressed in adults
UniProtKB/Swiss-Prot Function:
Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence.

Gene Ontology (GO) - Molecular Function for TBX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 11689487
GO:0005515 protein binding IPI 22002537
genes like me logo Genes that share ontologies with TBX3: view
genes like me logo Genes that share phenotypes with TBX3: view

Human Phenotype Ontology for TBX3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBX3 Gene

MGI Knock Outs for TBX3:

Animal Model Products

miRNA for TBX3 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TBX3 Gene

Localization for TBX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBX3 Gene COMPARTMENTS Subcellular localization image for TBX3 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for TBX3 Gene

Pathways & Interactions for TBX3 Gene

genes like me logo Genes that share pathways with TBX3: view

Pathways by source for TBX3 Gene

Gene Ontology (GO) - Biological Process for TBX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 11689487
GO:0001501 skeletal system development IMP 9207801
GO:0001568 blood vessel development IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001947 heart looping IEA --
genes like me logo Genes that share ontologies with TBX3: view

No data available for SIGNOR curated interactions for TBX3 Gene

Drugs & Compounds for TBX3 Gene

No Compound Related Data Available

Transcripts for TBX3 Gene

Unigene Clusters for TBX3 Gene

T-box 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBX3 Gene

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

Relevant External Links for TBX3 Gene

GeneLoc Exon Structure for
TBX3
ECgene alternative splicing isoforms for
TBX3

Expression for TBX3 Gene

mRNA expression in normal human tissues for TBX3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBX3 Gene

This gene is overexpressed in Adrenal Gland (x9.8) and Prostate (x4.9).

Protein differential expression in normal tissues from HIPED for TBX3 Gene

This gene is overexpressed in Adrenal (27.1), Liver (20.7), and Placenta (18.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBX3 Gene



SOURCE GeneReport for Unigene cluster for TBX3 Gene Hs.744016

mRNA Expression by UniProt/SwissProt for TBX3 Gene

O15119-TBX3_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with TBX3: view

Protein tissue co-expression partners for TBX3 Gene

Primer Products

In Situ Assay Products

Orthologs for TBX3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBX3 36
  • 100 (a)
OneToOne
TBX3 35
  • 99.55 (n)
  • 99.73 (a)
cow
(Bos Taurus)
Mammalia TBX3 35
  • 91.53 (n)
  • 96.33 (a)
TBX3 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBX3 36
  • 93 (a)
OneToOne
TBX3 35
  • 91.38 (n)
  • 93.97 (a)
mouse
(Mus musculus)
Mammalia Tbx3 36
  • 94 (a)
OneToOne
Tbx3 16
Tbx3 35
  • 86.51 (n)
  • 94.45 (a)
oppossum
(Monodelphis domestica)
Mammalia TBX3 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBX3 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbx3 35
  • 87 (n)
  • 94.6 (a)
chicken
(Gallus gallus)
Aves TBX3 35
  • 77.34 (n)
  • 83.07 (a)
TBX3 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBX3 36
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Tbx3 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14358 35
tbx3 35
  • 72.65 (n)
  • 79.45 (a)
zebrafish
(Danio rerio)
Actinopterygii tbx3a 36
  • 75 (a)
OneToOne
tbx3a 35
  • 71.35 (n)
  • 74.85 (a)
fruit fly
(Drosophila melanogaster)
Insecta bi 37
  • 78 (a)
Doc1 37
  • 50 (a)
Doc2 37
  • 54 (a)
Doc3 37
  • 55 (a)
org-1 37
  • 55 (a)
bi 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbx-2 37
  • 69 (a)
tbx-9 37
  • 39 (a)
tbx-2 36
  • 43 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToMany
Species with no ortholog for TBX3:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 TBX3 Gene

ENSEMBL:
Gene Tree for TBX3 (if available)
TreeFam:
Gene Tree for TBX3 (if available)

Paralogs for TBX3 Gene

Paralogs for TBX3 Gene

(2) SIMAP similar genes for TBX3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TBX3: view

Variants for TBX3 Gene

Sequence variations from dbSNP and Humsavar for TBX3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_009601 Ulnar-mammary syndrome (UMS)
VAR_009602 Ulnar-mammary syndrome (UMS)
rs10290 -- 114,676,331(-) CTGTA(A/G)GGACA reference, missense
rs14175 -- 114,674,780(-) GAGCA(C/T)GGCCC reference, synonymous-codon
rs15033 -- 114,671,851(-) CAGCG(C/T)GTCCC reference, missense

Variation tolerance for TBX3 Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.30; 53.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBX3 Gene

HapMap Linkage Disequilibrium report
TBX3
Human Gene Mutation Database (HGMD)
TBX3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TBX3 Gene

Disorders for TBX3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TBX3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ulnar-mammary syndrome
  • schinzel syndrome
holt-oram syndrome
  • atrio-digital syndrome
murcs association
  • klippel-feil deformity, conductive deafness, and absent vagina
acrorenal syndrome
sinoatrial node disease
  • sa node
- elite association - COSMIC cancer census association via MalaCards
Search TBX3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBX3_HUMAN
  • Ulnar-mammary syndrome (UMS) [MIM:181450]: Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands. {ECO:0000269 PubMed:10330342}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBX3

Genetic Association Database (GAD)
TBX3
Human Genome Epidemiology (HuGE) Navigator
TBX3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBX3
genes like me logo Genes that share disorders with TBX3: view

No data available for Genatlas for TBX3 Gene

Publications for TBX3 Gene

  1. The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. (PMID: 10330342) Bamshad M. … Jorde L.B. (Am. J. Hum. Genet. 1999) 3 4 23 67
  2. TBX3 is overexpressed in breast cancer and represses p14 ARF by interacting with histone deacetylases. (PMID: 18245468) Yarosh W. … Huang T. (Cancer Res. 2008) 3 23
  3. Tbx3 represses E-cadherin expression and enhances melanoma invasiveness. (PMID: 18829543) Rodriguez M. … Goding C.R. (Cancer Res. 2008) 3 23
  4. Tbx3, a transcriptional factor, involves in proliferation and osteogenic differentiation of human adipose stromal cells. (PMID: 16955224) Lee H.S. … Jung J.S. (Mol. Cell. Biochem. 2007) 3 23
  5. Increased expression of cSHMT, Tbx3 and utrophin in plasma of ovarian and breast cancer patients. (PMID: 16049973) Lomnytska M. … Souchelnytskyi S. (Int. J. Cancer 2006) 3 23

Products for TBX3 Gene

Sources for TBX3 Gene

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