Human Gene TBX20 (ENST00000408931.4) from GENCODE V41
  Description: Homo sapiens T-box transcription factor 20 (TBX20), transcript variant 2, mRNA. (from RefSeq NM_001166220)
RefSeq Summary (NM_001077653): This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009].
Gencode Transcript: ENST00000408931.4
Gencode Gene: ENSG00000164532.11
Transcript (Including UTRs)
   Position: hg38 chr7:35,202,430-35,254,100 Size: 51,671 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr7:35,202,430-35,253,620 Size: 51,191 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2022-05-14 09:57:26

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:35,202,430-35,254,100)mRNA (may differ from genome)Protein (447 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSCGAPEnsemblEntrez GeneExonPrimerGencode

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=T-box transcription factor TBX20; Short=T-box protein 20;
FUNCTION: Probable transcriptional regulator involved in developmental processes.
SUBCELLULAR LOCATION: Nucleus (Potential).
DISEASE: Defects in TBX20 are the cause of atrial septal defect type 4 (ASD4) [MIM:611363]. ASD4 is a congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ASD4 patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. ASD4 is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities.
SIMILARITY: Contains 1 T-box DNA-binding domain.
SEQUENCE CAUTION: Sequence=AAD21787.1; Type=Erroneous gene model prediction; Sequence=AAI20946.1; Type=Frameshift; Positions=294; Sequence=AAI20946.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=AAI20947.1; Type=Miscellaneous discrepancy; Note=Intron retention;

-  MalaCards Disease Associations
  MalaCards Gene Search: TBX20
Diseases sorted by gene-association score: atrial septal defect 4* (1229), patent foramen ovale* (215), isolated nonsyndromic congenital heart disease/defects* (100), heart septal defect (6), atrial heart septal defect (5), conotruncal heart malformations (4), heart disease (2), dilated cardiomyopathy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.10 RPKM in Heart - Atrial Appendage
Total median expression: 25.58 RPKM

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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -227.60480-0.474 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

ModBase Predicted Comparative 3D Structure on Q9UMR3
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
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001085 RNA polymerase II transcription factor binding
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0001105 RNA polymerase II transcription coactivator activity
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001569 branching involved in blood vessel morphogenesis
GO:0001706 endoderm formation
GO:0001764 neuron migration
GO:0001947 heart looping
GO:0003143 embryonic heart tube morphogenesis
GO:0003148 outflow tract septum morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0003175 tricuspid valve development
GO:0003176 aortic valve development
GO:0003180 aortic valve morphogenesis
GO:0003193 pulmonary valve formation
GO:0003203 endocardial cushion morphogenesis
GO:0003207 cardiac chamber formation
GO:0003215 cardiac right ventricle morphogenesis
GO:0003272 endocardial cushion formation
GO:0003279 cardiac septum development
GO:0003344 pericardium morphogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006936 muscle contraction
GO:0007275 multicellular organism development
GO:0008015 blood circulation
GO:0008283 cell proliferation
GO:0009953 dorsal/ventral pattern formation
GO:0010991 negative regulation of SMAD protein complex assembly
GO:0021524 visceral motor neuron differentiation
GO:0035050 embryonic heart tube development
GO:0035922 foramen ovale closure
GO:0036306 embryonic heart tube elongation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048370 lateral mesoderm formation
GO:0055008 cardiac muscle tissue morphogenesis
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060413 atrial septum morphogenesis
GO:0060577 pulmonary vein morphogenesis

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm

-  Descriptions from all associated GenBank mRNAs
  DQ986374 - Homo sapiens T-box transcription factor TBX20 isoform A (TBX20) mRNA, complete cds, alternatively spliced.
AB527845 - Synthetic construct DNA, clone: pF1KB7994, Homo sapiens TBX20 gene for T-box 20, without stop codon, in Flexi system.
BC120945 - Homo sapiens T-box 20, mRNA (cDNA clone IMAGE:40115116), partial cds.
BC120946 - Homo sapiens T-box 20, mRNA (cDNA clone MGC:149425 IMAGE:40115117), complete cds.
KJ899300 - Synthetic construct Homo sapiens clone ccsbBroadEn_08694 TBX20 gene, encodes complete protein.
KR711915 - Synthetic construct Homo sapiens clone CCSBHm_00032038 TBX20 (TBX20) mRNA, encodes complete protein.
KR711916 - Synthetic construct Homo sapiens clone CCSBHm_00032039 TBX20 (TBX20) mRNA, encodes complete protein.
KR711917 - Synthetic construct Homo sapiens clone CCSBHm_00032040 TBX20 (TBX20) mRNA, encodes complete protein.
KR711918 - Synthetic construct Homo sapiens clone CCSBHm_00032042 TBX20 (TBX20) mRNA, encodes complete protein.
AJ237589 - Homo sapiens mRNA for T-box transcription factor (TBX20 gene), partial.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D1Y6, ENST00000408931.1, ENST00000408931.2, ENST00000408931.3, NM_001166220, Q000T4, Q0IJ70, Q0VAS1, Q9UMR3, Q9Y2N5, TBX20_HUMAN, uc011kas.1, uc011kas.2, uc011kas.3, uc011kas.4
UCSC ID: ENST00000408931.4
RefSeq Accession: NM_001077653
Protein: Q9UMR3 (aka TBX20_HUMAN or TX20_HUMAN)
CCDS: CCDS43568.1

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