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... See more...

Aliases for TBX10 Gene

Aliases for TBX10 Gene

  • T-Box Transcription Factor 10 2 3 5
  • T-Box Transcription Factor TBX10 3 4
  • T-Box Protein 10 3 4
  • T-Box 10 2 3
  • T-Box 7 2 3
  • TBX13 2 3
  • TBX7 3 4
  • T-Box-Containing Transcriptional Activator 3
  • TBX10 5

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 Transcription Factor 10) is a Protein Coding gene. Diseases associated with TBX10 include Cleft Lip With Or Without Cleft Palate and 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 Summary for TBX10 Gene

  • Probable transcriptional regulator involved in developmental processes.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBX10 Gene

Genomics for TBX10 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH11J067640 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 250.7 -0.3 -337 1 MNT CTCF BHLHE40 SIN3A REST MAX TRIM22 RUNX1 SMAD4 SMC3 HSALNG0085177 TBX10 ENSG00000255119 ACY3
GH11J067645 Promoter/Enhancer 0.6 EPDnew dbSUPER 250.4 -5.4 -5425 0.1 POLR2A TBX10 ACY3 HSALNG0085177
GH11J067600 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.9 +38.9 38863 3 SP1 BCL11A IKZF1 HES1 MBD2 BHLHE40 ZNF395 VEZF1 ZEB2 TAL1 NUDT8 ENSG00000255119 TBX10 NDUFV1 CDK2AP2 RAD9A piR-40163-017 piR-43583-082 GSTP1
GH11J067560 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.3 +76.9 76879 3.9 DEK IKZF1 CEBPB ZNF395 REST FOXA2 IRF4 TRIM22 EP300 ZEB2 lnc-CABP2-1 PTPRCAP AIP KMT5B NDUFV1 PPP6R3 RBM14 CABP2 C11orf72 ENSG00000255119
GH11J067572 Enhancer 1.1 ENCODE dbSUPER 12 +66.8 66753 1.4 CEBPA MNT IKZF1 HES1 ZNF217 CTCF BHLHE40 THAP11 ARNT REST NDUFV1 RBM4B C11orf72 ENSG00000255119 DOC2GP NUDT8 TBX10 AIP ACY3 ENSG00000227834
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBX10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBX10

Top Transcription factor binding sites by QIAGEN in the TBX10 gene promoter:
  • CREB
  • E47
  • GATA-1
  • Hand1
  • HEN1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for TBX10 Gene

Latest Assembly
chr11:67,631,303-67,639,763
(GRCh38/hg38)
Size:
8,461 bases
Orientation:
Minus strand

Previous Assembly
chr11:67,398,774-67,407,234
(GRCh37/hg19 by Entrez Gene)
Size:
8,461 bases
Orientation:
Minus strand

chr11:67,398,774-67,407,031
(GRCh37/hg19 by Ensembl)
Size:
8,258 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX10 Gene

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 intracellular proteins
  • Transcription factors

Protein Domains for TBX10 Gene

InterPro:
Blocks:
  • Transcription factor, T-box
ProtoNet:

Suggested Antigen Peptide Sequences for TBX10 Gene

GenScript: Design optimal peptide antigens:
  • T-box transcription factor TBX10 (TBX10_HUMAN)
genes like me logo Genes that share domains with TBX10: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TBX10 Gene

Function for TBX10 Gene

Molecular function for TBX10 Gene

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

Phenotypes From GWAS Catalog for TBX10 Gene

Gene Ontology (GO) - Molecular Function for TBX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
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:
  • Tbx10 Tbx10<tm1.1Miu>
  • Tbx10 Tbx10<tm2b(EUCOMM)Hmgu>

Animal Models for research

  • Taconic Biosciences Mouse Models for TBX10

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBX10

No data available for Enzyme Numbers (IUBMB) , 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 0
endoplasmic reticulum 0
cytosol 0
lysosome 0

Gene Ontology (GO) - Cellular Components for TBX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
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

PathCards logo

SuperPathways for TBX10 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001708 cell fate specification IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS,IBA 21873635
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

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBX10

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

No ASD Table

Relevant External Links for TBX10 Gene

GeneLoc Exon Structure for
TBX10

Expression for TBX10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for TBX10 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

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 30 31
  • 98.96 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TBX10 30 31
  • 86.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TBX10 30 31
  • 85.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tbx10 30
  • 84.06 (n)
Mouse
(Mus musculus)
Mammalia Tbx10 30 17 31
  • 83.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TBX10 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TBX10 30 31
  • 82.47 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TBX10 31
  • 73 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ntla 31
  • 26 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta org-1 31
  • 23 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tbx-7 31
  • 33 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14214 30
Species where no ortholog for TBX10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for TBX10: view image

Paralogs for TBX10 Gene

(14) SIMAP similar genes for TBX10 Gene using alignment to 1 proteins:

  • TBX10_HUMAN
genes like me logo Genes that share paralogs with TBX10: view

Variants for TBX10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBX10 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs73490597 Benign: not provided 67,639,456(-) C/T
NM_005995.4(TBX10):c.7+10G>A
INTRON
rs11227873 - p.Gln160His
rs3758938 - p.Lys101Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TBX10 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for TBX10 Gene

MalaCards: The human disease database

(13) MalaCards diseases for TBX10 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cleft lip with or without cleft palate
  • tessier cleft number 1,2
cleft lip
  • cheiloschisis
isolated cleft lip
digeorge syndrome
  • dgs
immunodeficiency 13
  • imd13
- 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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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 41
  3. 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 41
  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 41
  5. 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 41

Products for TBX10 Gene

Sources for TBX10 Gene