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Aliases for TBX10 Gene

Aliases for TBX10 Gene

  • T-Box 10 2 3 5
  • 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 HGNC Symbols for TBX10 Gene

  • TBX7

Previous GeneCards Identifiers for TBX10 Gene

  • GC11M069922
  • GC11M069095
  • GC11M067648
  • GC11M067174
  • GC11M067157
  • GC11M067398
  • GC11M063728

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 and Isolated Cleft Lip. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity. An important paralog of this gene is TBX1.

UniProtKB/Swiss-Prot for TBX10 Gene

  • Probable transcriptional regulator involved in developmental processes.

Additional gene information for TBX10 Gene

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

Genomics for TBX10 Gene

GeneHancer (GH) Regulatory Elements for TBX10 Gene

Promoters and enhancers for TBX10 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
GH11I067640 Enhancer 0.8 ENCODE 550.8 -0.6 -585 0.2 CLOCK RB1 ARID4B SIN3A ZNF48 RAD21 E2F8 ZNF143 CREM RXRA TBX10 RBM4B KMT5B ENSG00000258297 ACY3
GH11I067572 Enhancer 1.4 Ensembl ENCODE dbSUPER 12 +66.6 66550 1.4 HDGF PKNOX1 ATF1 FOXA2 ARNT ARID4B ZNF2 TCF12 ZNF143 FOS NDUFV1 RBM14 RBM4B C11orf72 ENSG00000255119 DOC2GP NUDT8 TBX10 KDM2A PPP6R3
GH11I067600 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.9 +38.9 38920 0.7 HDAC1 PKNOX1 ZBTB40 TCF12 ZNF766 ATF7 IKZF2 RUNX3 CBFB ZBTB11 ENSG00000255119 NUDT8 TBX10 GC11P067588 GC11M067584
GH11I067560 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.3 +76.7 76676 3.9 PKNOX1 ATF1 IRF4 YY1 ZNF766 ZNF207 ATF7 FOS RUNX3 DEK PTPRCAP AIP KMT5B NDUFV1 ENSG00000258297 PPP6R3 RBM14 CABP2 C11orf72 ENSG00000255119
GH11I067667 Enhancer 0.6 ENCODE 12.3 -28.6 -28590 0.9 L3MBTL2 ZNF114 EBF1 CDC5L ZFHX2 GLIS2 NFIC ZNF341 RUNX3 EGR2 ALDH3B2 TBX10 NUDT8 GC11P067662 GC11M067673
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBX10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBX10 gene promoter:

Genomic Locations for TBX10 Gene

Genomic Locations for TBX10 Gene
chr11:67,631,303-67,639,560
(GRCh38/hg38)
Size:
8,258 bases
Orientation:
Minus strand
chr11:67,398,774-67,407,031
(GRCh37/hg19)

Genomic View for TBX10 Gene

Genes around TBX10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBX10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBX10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TBX10 Gene

No Post-translational modifications

Other Protein References for TBX10 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBX10 Gene

Domains & Families for TBX10 Gene

Gene Families for TBX10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins
  • Transcription factors

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

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

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

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 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

Animal Models for TBX10 Gene

MGI Knock Outs for TBX10:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TBX10 Gene

Localization for TBX10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX10 Gene

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 TBX10 gene
Compartment Confidence
nucleus 4
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TBX10 Gene

Pathways & Interactions 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 IEA --
GO:0006357 regulation of transcription by RNA polymerase II 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 and SIGNOR curated interactions for TBX10 Gene

Drugs & Compounds for TBX10 Gene

No Compound Related Data Available

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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x22.4) and Small Intestine - Terminal Ileum (x19.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TBX10 Gene



NURSA nuclear receptor signaling pathways regulating expression of TBX10 Gene:

TBX10

SOURCE GeneReport for Unigene cluster for TBX10 Gene:

Hs.454480

Evidence on tissue expression from TISSUES for TBX10 Gene

  • Lymph node(4)
genes like me logo Genes that share expression patterns with TBX10: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 98.96 (n)
cow
(Bos Taurus)
Mammalia TBX10 33 34
  • 86.67 (n)
dog
(Canis familiaris)
Mammalia TBX10 33 34
  • 85.47 (n)
rat
(Rattus norvegicus)
Mammalia Tbx10 33
  • 84.06 (n)
mouse
(Mus musculus)
Mammalia Tbx10 33 16 34
  • 83.46 (n)
oppossum
(Monodelphis domestica)
Mammalia TBX10 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBX10 33 34
  • 82.47 (n)
lizard
(Anolis carolinensis)
Reptilia TBX10 34
  • 73 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ntla 34
  • 26 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta org-1 34
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbx-7 34
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14214 33
Species where no ortholog for TBX10 was found in the sources mined by GeneCards:
  • 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

(14) 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 Variation AA Info Type
rs1000072502 -- 67,634,329(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000462975 -- 67,641,549(-) C/T upstream_transcript_variant
rs1000873272 -- 67,638,678(-) G/C genic_upstream_transcript_variant, intron_variant
rs1001291572 -- 67,637,374(-) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001368173 -- 67,638,343(-) A/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1214n100 CNV gain 25217958
dgv154n27 CNV loss 19166990
dgv1981n54 CNV gain 21841781
dgv1982n54 CNV loss 21841781
esv2422195 CNV duplication 17116639
nsv468606 CNV gain 19166990
nsv468609 CNV loss 19166990
nsv469963 CNV loss 18288195
nsv555272 CNV loss 21841781
nsv555273 CNV loss 21841781
nsv951023 CNV deletion 24416366

Variation tolerance for TBX10 Gene

Residual Variation Intolerance Score: 22.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.52; 77.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBX10 Gene

Human Gene Mutation Database (HGMD)
TBX10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBX10

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

Disorders for TBX10 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TBX10 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cleft lip
  • cheiloschisis
isolated cleft lip
orofacial cleft
- elite association - COSMIC cancer census association via MalaCards
Search TBX10 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TBX10

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 TBX10: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 DJ … Silver LM (Mammalian genome : official journal of the International Mammalian Genome Society 1998) 2 3 4 58
  2. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 44 58
  3. 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 PP (Birth defects research. Part A, Clinical and molecular teratology 2010) 3 44 58
  4. Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. (PMID: 20672350) Nikopensius T … Metspalu A (Birth defects research. Part A, Clinical and molecular teratology 2010) 3 44 58
  5. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. (PMID: 20572854) Jagomägi T … Metspalu A (European journal of oral sciences 2010) 3 44 58

Products for TBX10 Gene

Sources for TBX10 Gene

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