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Aliases for TBX3 Gene

Aliases for TBX3 Gene

  • T-Box 3 2 3
  • T-Box Protein 3 3 4
  • Bladder Cancer Related Protein XHL 3
  • T-Box Transcription Factor TBX3 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 murcs association. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and RNA polymerase II activating transcription factor 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

Genomic Location for TBX3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

No data available for DME Specific Peptides for TBX3 Gene

Domains for TBX3 Gene

Gene Families for TBX3 Gene

HGNC:

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 :
  • O15119
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:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA 11689487
GO:0001085 RNA polymerase II transcription factor binding ISS --
GO:0001102 RNA polymerase II activating transcription factor binding ISS --
GO:0003700 sequence-specific DNA binding transcription factor activity --
genes like me logo Genes that share ontologies with TBX3: view
genes like me logo Genes that share phenotypes with TBX3: view

Animal Models for TBX3 Gene

MGI Knock Outs for TBX3:

miRNA for TBX3 Gene

miRTarBase miRNAs that target TBX3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TBX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11689487
genes like me logo Genes that share ontologies with TBX3: view

Pathways for TBX3 Gene

SuperPathways for TBX3 Gene

No Data Available

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 Pathways by source for TBX3 Gene

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 (9.8) and Prostate (4.9).

Integrated Proteomics: protein expression 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 expressions with TBX3: view

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 35
  • 99.55 (n)
  • 99.73 (a)
TBX3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBX3 35
  • 91.53 (n)
  • 96.33 (a)
TBX3 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBX3 35
  • 91.38 (n)
  • 93.97 (a)
TBX3 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbx3 35
  • 86.51 (n)
  • 94.45 (a)
Tbx3 16
Tbx3 36
  • 94 (a)
OneToOne
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 35
  • 71.35 (n)
  • 74.85 (a)
tbx3a 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bi 36
  • 27 (a)
OneToMany
bi 37
  • 78 (a)
Doc3 37
  • 55 (a)
Doc2 37
  • 54 (a)
org-1 37
  • 55 (a)
Doc1 37
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea tbx-2 36
  • 43 (a)
OneToMany
tbx-9 37
  • 39 (a)
tbx-2 37
  • 69 (a)
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

Selected 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 MAF
rs8853 -- 114,671,102(-) ACCCA(A/G)GGGAG utr-variant-3-prime
rs10290 -- 114,676,331(-) CTGTA(A/G)GGACA missense, reference
rs14175 -- 114,674,780(-) GAGCA(C/T)GGCCC synonymous-codon, reference
rs15033 -- 114,671,851(-) CAGCG(C/T)GTCCC reference, missense
rs59336 -- 114,678,547(-) GTGTG(A/T)ATACC intron-variant

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

(1) OMIM Diseases for TBX3 Gene (601621)

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.

(6) Novoseek inferred disease relationships for TBX3 Gene

Disease -log(P) Hits PubMed IDs
ulnar-mammary syndrome 98.9 21
holt-oram syndrome 84.6 1
digeorge syndrome 59.8 1
hypoplasia 40.2 1
cancer 9.37 7

Relevant External Links for TBX3

Genetic Association Database (GAD)
TBX3
Human Genome Epidemiology (HuGE) Navigator
TBX3
genes like me logo Genes that share disorders with TBX3: view

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
  2. Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. (PMID: 10468588) He M.-L. … Rao Y. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 4 23
  3. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. (PMID: 9207801) Bamshad M. … Jorde L.B. (Nat. Genet. 1997) 3 4 23
  4. Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. (PMID: 12005433) Coll M. … Muller C.W. (Structure 2002) 3 4 23
  5. A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. (PMID: 11689487) Carlson H. … Hurlin P.J. (Hum. Mol. Genet. 2001) 3 23

Products for TBX3 Gene

Sources for TBX3 Gene

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