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Aliases for TBX10 Gene

Aliases for TBX10 Gene

  • T-Box 10 2 3
  • T-Box Protein 10 3 4
  • T-Box 7 2 3
  • TBX7 3 4
  • T-Box-Containing Transcriptional Activator 3
  • T-Box Transcription Factor TBX10 3
  • TBX13 3

External Ids for TBX10 Gene

Previous Symbols for TBX10 Gene

  • TBX7

Summaries for TBX10 Gene

Entrez Gene Summary for TBX10 Gene

  • This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]

GeneCards Summary for TBX10 Gene

TBX10 (T-Box 10) is a Protein Coding gene. Diseases associated with TBX10 include cleft lip. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TBX20.

UniProtKB/Swiss-Prot for TBX10 Gene

  • Probable transcriptional regulator involved in developmental processes

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBX10 Gene

Genomics for TBX10 Gene

Genomic Location for TBX10 Gene

Start:
67,631,303 bp from pter
End:
67,639,560 bp from pter
Size:
8,258 bases
Orientation:
Minus strand

Genomic View for TBX10 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBX10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBX10 Gene

Regulatory Elements for TBX10 Gene

Proteins for TBX10 Gene

  • Protein details for TBX10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75333-TBX10_HUMAN
    Recommended name:
    T-box transcription factor TBX10
    Protein Accession:
    O75333
    Secondary Accessions:
    • Q14D64
    • Q86XS3

    Protein attributes for TBX10 Gene

    Size:
    385 amino acids
    Molecular mass:
    42341 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC23481.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for TBX10 Gene

Proteomics data for TBX10 Gene at MOPED

Post-translational modifications for TBX10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX10 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBX10 Gene

Domains for TBX10 Gene

Gene Families for TBX10 Gene

HGNC:

Protein Domains for TBX10 Gene

Suggested Antigen Peptide Sequences for TBX10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75333

UniProtKB/Swiss-Prot:

TBX10_HUMAN
Domain:
  • Contains 1 T-box DNA-binding domain.:
    • O75333
genes like me logo Genes that share domains with TBX10: view

Function for TBX10 Gene

Molecular function for TBX10 Gene

GENATLAS Biochemistry: murine T-box gene Tbx10 (T,brachyury),expressed in brain,ovary,uterus,pituitary and fetal kidney,involved in developmental regulation
UniProtKB/Swiss-Prot Function: Probable transcriptional regulator involved in developmental processes

Gene Ontology (GO) - Molecular Function for TBX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with TBX10: view
genes like me logo Genes that share phenotypes with TBX10: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TBX10 Gene

Localization for TBX10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX10 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBX10 Gene COMPARTMENTS Subcellular localization image for TBX10 gene
Compartment Confidence
nucleus 3
extracellular 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TBX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with TBX10: view

Pathways for TBX10 Gene

SuperPathways for TBX10 Gene

No Data Available

Interacting Proteins for TBX10 Gene

Gene Ontology (GO) - Biological Process for TBX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 9545502
GO:0009653 anatomical structure morphogenesis TAS 9545502
genes like me logo Genes that share ontologies with TBX10: view

No data available for Pathways by source for TBX10 Gene

Transcripts for TBX10 Gene

mRNA/cDNA for TBX10 Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TBX10 Gene

T-box 10:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBX10 Gene

No ASD Table

Relevant External Links for TBX10 Gene

GeneLoc Exon Structure for
TBX10
ECgene alternative splicing isoforms for
TBX10

Expression for TBX10 Gene

mRNA expression in normal human tissues for TBX10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBX10 Gene

This gene is overexpressed in Colon - Transverse (22.4) and Small Intestine - Terminal Ileum (19.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for TBX10 Gene

SOURCE GeneReport for Unigene cluster for TBX10 Gene Hs.454480

genes like me logo Genes that share expressions with TBX10: view

No data available for mRNA Expression by UniProt/SwissProt for TBX10 Gene

Orthologs for TBX10 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBX10 35
  • 98.96 (n)
  • 98.96 (a)
TBX10 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBX10 35
  • 86.67 (n)
  • 86.32 (a)
TBX10 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBX10 35
  • 85.47 (n)
  • 84.64 (a)
TBX10 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbx10 35
  • 83.46 (n)
  • 82.08 (a)
Tbx10 16
Tbx10 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBX10 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbx10 35
  • 84.06 (n)
  • 81.34 (a)
chicken
(Gallus gallus)
Aves TBX10 35
  • 82.47 (n)
  • 84.9 (a)
TBX10 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBX10 36
  • 73 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ntla 36
  • 26 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta org-1 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbx-7 36
  • 33 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14214 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for TBX10:
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TBX10 Gene

ENSEMBL:
Gene Tree for TBX10 (if available)
TreeFam:
Gene Tree for TBX10 (if available)

Paralogs for TBX10 Gene

Paralogs for TBX10 Gene

Selected SIMAP similar genes for TBX10 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TBX10: view

Variants for TBX10 Gene

Sequence variations from dbSNP and Humsavar for TBX10 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1317934 -- 67,635,436(+) AAAGT(C/T)TATTT intron-variant
rs1317935 -- 67,635,466(+) GGTAG(C/T)GTCAG intron-variant
rs1551884 -- 67,632,130(+) CACCC(C/G)CTGCC intron-variant
rs1993839 -- 67,639,358(-) TTCAC(A/G)AGAGG intron-variant
rs2126720 -- 67,635,122(+) GCTCG(G/T)CCACA missense, reference

Structural Variations from Database of Genomic Variants (DGV) for TBX10 Gene

Variant ID Type Subtype PubMed ID
nsv897801 CNV Loss 21882294
dgv1194n71 CNV Loss 21882294
esv2422195 CNV Duplication 17116639
dgv1196n71 CNV Loss 21882294
nsv897815 CNV Loss 21882294
nsv468606 CNV Gain 19166990
dgv1197n71 CNV Loss 21882294
dgv154n27 CNV Loss 19166990
dgv1198n71 CNV Loss 21882294
dgv1199n71 CNV Loss 21882294
nsv468609 CNV Loss 19166990
nsv469963 CNV Loss 18288195

Relevant External Links for TBX10 Gene

HapMap Linkage Disequilibrium report
TBX10
Human Gene Mutation Database (HGMD)
TBX10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX10 Gene

Disorders for TBX10 Gene

(1) MalaCards Diseases for TBX10 Gene

Search for TBX10 Gene in MalaCards »

(2) University of Copenhagen DISEASES for TBX10 Gene

Relevant External Links for TBX10

Genetic Association Database (GAD)
TBX10
Human Genome Epidemiology (HuGE) Navigator
TBX10
genes like me logo Genes that share disorders with TBX10: view

No data available for UniProtKB/Swiss-Prot for TBX10 Gene

Publications for TBX10 Gene

  1. TBX10, a member of the Tbx1-subfamily of conserved developmental genes, is located at human chromosome 11q13 and proximal mouse chromosome 19. (PMID: 9545502) Law D.J. … Silver L.M. (Mamm. Genome 1998) 2 3 4
  2. The T-box gene Tbx10 exhibits a uniquely restricted expression pattern during mouse embryogenesis. (PMID: 12915323) Bush J.O. … Jiang R. (Gene Expr. Patterns 2003) 3 4
  3. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. (PMID: 16327884) Vieira A.R. … Murray J.C. (PLoS Genet. 2005) 3 48
  4. Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population. (PMID: 20544801) Mostowska A. … Jagodzinski P.P. (Birth Defects Res. Part A Clin. Mol. Teratol. 2010) 3 48
  5. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. (PMID: 20572854) JagomAogi T. … Metspalu A. (Eur. J. Oral Sci. 2010) 3 48

Products for TBX10 Gene

Sources for TBX10 Gene

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