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Aliases for TBX6 Gene

Aliases for TBX6 Gene

  • T-Box 6 2 3 5
  • T-Box Protein 6 3 4
  • SCDO5 3

External Ids for TBX6 Gene

Previous GeneCards Identifiers for TBX6 Gene

  • GC16P029057
  • GC16M030419
  • GC16M030095
  • GC16M030134
  • GC16M030004
  • GC16M027758

Summaries for TBX6 Gene

Entrez Gene Summary for TBX6 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. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]

GeneCards Summary for TBX6 Gene

TBX6 (T-Box 6) is a Protein Coding gene. Diseases associated with TBX6 include spondylocostal dysostosis 5 and autosomal dominant spondylocostal dysostosis. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Crest Differentiation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II activating transcription factor binding. An important paralog of this gene is TBX20.

UniProtKB/Swiss-Prot for TBX6 Gene

  • T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBX6 Gene

Genomics for TBX6 Gene

Regulatory Elements for TBX6 Gene

Promoters for TBX6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBX6 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TBX6 gene promoter:

Genomic Location for TBX6 Gene

Chromosome:
16
Start:
30,085,793 bp from pter
End:
30,091,937 bp from pter
Size:
6,145 bases
Orientation:
Minus strand

Genomic View for TBX6 Gene

Genes around TBX6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBX6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBX6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBX6 Gene

Proteins for TBX6 Gene

  • Protein details for TBX6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95947-TBX6_HUMAN
    Recommended name:
    T-box transcription factor TBX6
    Protein Accession:
    O95947
    Secondary Accessions:
    • Q8TAS4
    • Q9HA44

    Protein attributes for TBX6 Gene

    Size:
    436 amino acids
    Molecular mass:
    47045 Da
    Quaternary structure:
    • Forms a dimeric complex with DNA (in vitro).

    Alternative splice isoforms for TBX6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBX6 Gene

Proteomics data for TBX6 Gene at MOPED

Post-translational modifications for TBX6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX6 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for TBX6

No data available for DME Specific Peptides for TBX6 Gene

Domains & Families for TBX6 Gene

Gene Families for TBX6 Gene

Graphical View of Domain Structure for InterPro Entry

O95947

UniProtKB/Swiss-Prot:

TBX6_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 TBX6: view

Function for TBX6 Gene

Molecular function for TBX6 Gene

GENATLAS Biochemistry:
murine T-box gene Tbx6 (T,brachyury) homolog,expressed during gastrulation and in some adult tissues,including testis,involved in paraxial mesoderm formation and somitogenesis
UniProtKB/Swiss-Prot Function:
T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity).

Gene Ontology (GO) - Molecular Function for TBX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TBX6: view
genes like me logo Genes that share phenotypes with TBX6: view

Human Phenotype Ontology for TBX6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBX6 Gene

MGI Knock Outs for TBX6:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for TBX6 Gene

Localization for TBX6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX6 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBX6 Gene COMPARTMENTS Subcellular localization image for TBX6 gene
Compartment Confidence
nucleus 4
cytosol 2
cytoskeleton 1
extracellular 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for TBX6 Gene

Pathways & Interactions for TBX6 Gene

genes like me logo Genes that share pathways with TBX6: view

Pathways by source for TBX6 Gene

Gene Ontology (GO) - Biological Process for TBX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001707 mesoderm formation IEA --
GO:0001708 cell fate specification IEA --
GO:0009653 anatomical structure morphogenesis TAS 9888994
GO:0023019 signal transduction involved in regulation of gene expression IEA --
genes like me logo Genes that share ontologies with TBX6: view

No data available for SIGNOR curated interactions for TBX6 Gene

Drugs & Compounds for TBX6 Gene

No Compound Related Data Available

Transcripts for TBX6 Gene

Unigene Clusters for TBX6 Gene

T-box 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBX6 Gene

No ASD Table

Relevant External Links for TBX6 Gene

GeneLoc Exon Structure for
TBX6
ECgene alternative splicing isoforms for
TBX6

Expression for TBX6 Gene

mRNA expression in normal human tissues for TBX6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBX6 Gene

This gene is overexpressed in Esophagus - Mucosa (x6.2).

SOURCE GeneReport for Unigene cluster for TBX6 Gene Hs.198301

mRNA Expression by UniProt/SwissProt for TBX6 Gene

O95947-TBX6_HUMAN
Tissue specificity: Expressed in fetal tail bud, posterior spinal tissue, intervertebral disk and testis. Also expressed in adult testis, kidney, lung, muscle and thymus.
genes like me logo Genes that share expression patterns with TBX6: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for TBX6 Gene

Orthologs for TBX6 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBX6 36
  • 99 (a)
OneToOne
TBX6 35
  • 99.46 (n)
  • 98.85 (a)
cow
(Bos Taurus)
Mammalia TBX6 35
  • 88.53 (n)
  • 91.97 (a)
TBX6 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBX6 36
  • 91 (a)
OneToOne
TBX6 35
  • 87.31 (n)
  • 90.14 (a)
mouse
(Mus musculus)
Mammalia Tbx6 16
Tbx6 36
  • 88 (a)
OneToOne
Tbx6 35
  • 85.02 (n)
  • 87.84 (a)
oppossum
(Monodelphis domestica)
Mammalia TBX6 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBX6 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbx6 35
  • 84.79 (n)
  • 87.39 (a)
chicken
(Gallus gallus)
Aves TBX6 36
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBX6 36
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tbx6 36
  • 21 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Doc1 36
  • 33 (a)
ManyToMany
Doc2 36
  • 28 (a)
ManyToMany
Doc3 36
  • 31 (a)
ManyToMany
Doc1 37
  • 52 (a)
Doc2 37
  • 57 (a)
Doc3 37
  • 54 (a)
Species with no ortholog for TBX6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TBX6 Gene

ENSEMBL:
Gene Tree for TBX6 (if available)
TreeFam:
Gene Tree for TBX6 (if available)

Paralogs for TBX6 Gene

Paralogs for TBX6 Gene

(15) SIMAP similar genes for TBX6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TBX6: view

Variants for TBX6 Gene

Sequence variations from dbSNP and Humsavar for TBX6 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs12925839 - 30,089,031(+) CAGGA(A/G)AGTCG nc-transcript-variant, reference, missense
rs12925838 - 30,089,029(+) GGCAG(A/G)AGAGT nc-transcript-variant, reference, missense
rs56098093 - 30,089,080(+) CTTGC(C/T)GCTGG nc-transcript-variant, reference, missense
rs3809626 -- 30,091,757(+) ACAGG(A/G)CACTC intron-variant, nc-transcript-variant, utr-variant-5-prime
rs3833842 -- 30,086,869(-) CATCA(-/TCA)CCACC intron-variant, cds-indel

Structural Variations from Database of Genomic Variants (DGV) for TBX6 Gene

Variant ID Type Subtype PubMed ID
dgv2668n71 CNV Loss 21882294
nsv833187 CNV Loss 17160897
nsv905720 CNV Loss 21882294
dgv846e1 CNV Complex 17122850

Variation tolerance for TBX6 Gene

Residual Variation Intolerance Score: 43.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.33; 41.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBX6 Gene

HapMap Linkage Disequilibrium report
TBX6
Human Gene Mutation Database (HGMD)
TBX6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX6 Gene

Disorders for TBX6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TBX6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spondylocostal dysostosis 5
  • costovertebral segmentation anomalies
autosomal dominant spondylocostal dysostosis
  • autosomal dominant spondylocostal dysplasia
spondylocostal dysostosis 5, autosomal dominant
spondylocostal dysostosis
  • jarcho-levin syndrome
dysostosis
  • dysostoses
- elite association - COSMIC cancer census association via MalaCards
Search TBX6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBX6_HUMAN
  • Spondylocostal dysostosis 5, autosomal dominant (SCDO5) [MIM:122600]: A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. {ECO:0000269 PubMed:23335591}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBX6

Genetic Association Database (GAD)
TBX6
Human Genome Epidemiology (HuGE) Navigator
TBX6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBX6
genes like me logo Genes that share disorders with TBX6: view

No data available for Genatlas for TBX6 Gene

Publications for TBX6 Gene

  1. Identification, mapping and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19. (PMID: 9888994) Yi C.-H. … Brook J.D. (Genomics 1999) 2 3 4 67
  2. The human TBX6 gene: cloning and assignment to chromosome 16p11.2. (PMID: 9933572) Papapetrou C. … Edwards Y.H. (Genomics 1999) 2 3
  3. Variations in RBM8A and TBX6 are associated with disorders of the mA1llerian ducts. (PMID: 25813282) Tewes A.C. … Ledig S. (Fertil. Steril. 2015) 3
  4. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. (PMID: 25564734) Wu N. … Zhang F. (N. Engl. J. Med. 2015) 3
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3

Products for TBX6 Gene

Sources for TBX6 Gene

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