Human Gene TBX10 (uc001omp.3)
  Description: Homo sapiens T-box 10 (TBX10), mRNA.
RefSeq Summary (NM_005995): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:67,398,774-67,407,031 Size: 8,258 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr11:67,399,076-67,406,943 Size: 7,868 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:67,398,774-67,407,031)mRNA (may differ from genome)Protein (385 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TBX10_HUMAN
DESCRIPTION: RecName: Full=T-box transcription factor TBX10; Short=T-box protein 10;
FUNCTION: Probable transcriptional regulator involved in developmental processes.
SUBCELLULAR LOCATION: Nucleus (Potential).
SIMILARITY: Contains 1 T-box DNA-binding domain.
SEQUENCE CAUTION: Sequence=AAC23481.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TBX10
CDC HuGE Published Literature: TBX10

-  MalaCards Disease Associations
  MalaCards Gene Search: TBX10
Diseases sorted by gene-association score: cleft lip (10), isolated cleft lip (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.52 RPKM in Small Intestine - Terminal Ileum
Total median expression: 10.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.1088-0.240 Picture PostScript Text
3' UTR -109.80302-0.364 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008967 - p53-like_TF_DNA-bd
IPR001699 - TF_T-box
IPR018186 - TF_T-box_CS

Pfam Domains:
PF00907 - T-box

SCOP Domains:
49417 - p53-like transcription factors

ModBase Predicted Comparative 3D Structure on O75333
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0009653 anatomical structure morphogenesis

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AY229977 - Homo sapiens transcription factor TBX10 (TBX10) mRNA, complete cds.
LP895831 - Sequence 695 from Patent EP3253886.
JD433816 - Sequence 414840 from Patent EP1572962.
JD105260 - Sequence 86284 from Patent EP1572962.
JD123611 - Sequence 104635 from Patent EP1572962.
JD251876 - Sequence 232900 from Patent EP1572962.
JD077814 - Sequence 58838 from Patent EP1572962.
JD228179 - Sequence 209203 from Patent EP1572962.
JD259740 - Sequence 240764 from Patent EP1572962.
JD389434 - Sequence 370458 from Patent EP1572962.
JD389822 - Sequence 370846 from Patent EP1572962.
JD133048 - Sequence 114072 from Patent EP1572962.
BC113485 - Homo sapiens T-box 10, mRNA (cDNA clone MGC:142045 IMAGE:8322537), complete cds.
BC113487 - Homo sapiens T-box 10, mRNA (cDNA clone MGC:142047 IMAGE:8322539), complete cds.
JD544099 - Sequence 525123 from Patent EP1572962.
HQ258204 - Synthetic construct Homo sapiens clone IMAGE:100072513 T-box 10 (TBX10) gene, encodes complete protein.
JD181195 - Sequence 162219 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_005995, NP_005986, O75333, Q14D64, Q86XS3, TBX10_HUMAN, TBX7
UCSC ID: uc001omp.3
RefSeq Accession: NM_005995
Protein: O75333 (aka TBX10_HUMAN or TX10_HUMAN)
CCDS: CCDS31621.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005995.4
exon count: 8CDS single in 3' UTR: no RNA size: 1557
ORF size: 1158CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2516.00frame shift in genome: no % Coverage: 99.42
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.