Human Gene TCF21 (ENST00000367882.5_5) from GENCODE V47lift37
  Description: transcription factor 21, transcript variant 2 (from RefSeq NM_003206.4)
Gencode Transcript: ENST00000367882.5_5
Gencode Gene: ENSG00000118526.7_6
Transcript (Including UTRs)
   Position: hg19 chr6:134,210,251-134,213,395 Size: 3,145 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr6:134,210,536-134,212,940 Size: 2,405 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:134,210,251-134,213,395)mRNA (may differ from genome)Protein (179 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TCF21_HUMAN
DESCRIPTION: RecName: Full=Transcription factor 21; Short=TCF-21; AltName: Full=Capsulin; AltName: Full=Class A basic helix-loop-helix protein 23; Short=bHLHa23; AltName: Full=Epicardin; AltName: Full=Podocyte-expressed 1; Short=Pod-1;
FUNCTION: Involved in epithelial-mesenchymal interactions in kidney and lung morphogenesis that include epithelial differentiation and branching morphogenesis. May play a role in the specification or differentiation of one or more subsets of epicardial cell types.
SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3 and binds the E box (5'-CANNTG-3').
SUBCELLULAR LOCATION: Nucleus.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: TCF21
Diseases sorted by gene-association score: cardiomyopathy, dilated, 1j (12), deafness, autosomal dominant 10 (6)

-  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: 38.89 RPKM in Lung
Total median expression: 229.98 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 -93.40285-0.328 Picture PostScript Text
3' UTR -108.50455-0.238 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
IPR011598 - HLH_dom

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on O43680
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 DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
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:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0042826 histone deacetylase binding
GO:0043425 bHLH transcription factor binding
GO:0046983 protein dimerization activity
GO:0050681 androgen receptor binding
GO:0070888 E-box binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001657 ureteric bud development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001763 morphogenesis of a branching structure
GO:0001822 kidney development
GO:0001944 vasculature development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007530 sex determination
GO:0007548 sex differentiation
GO:0009887 animal organ morphogenesis
GO:0014707 branchiomeric skeletal muscle development
GO:0030855 epithelial cell differentiation
GO:0032835 glomerulus development
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048286 lung alveolus development
GO:0048536 spleen development
GO:0048557 embryonic digestive tract morphogenesis
GO:0048608 reproductive structure development
GO:0048732 gland development
GO:0060008 Sertoli cell differentiation
GO:0060021 palate development
GO:0060425 lung morphogenesis
GO:0060426 lung vasculature development
GO:0060435 bronchiole development
GO:0060539 diaphragm development
GO:0060541 respiratory system development
GO:0060766 negative regulation of androgen receptor signaling pathway
GO:0072162 metanephric mesenchymal cell differentiation
GO:0072277 metanephric glomerular capillary formation

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AF035718 - Homo sapiens mesoderm-specific basic-helix-loop-helix protein (POD1) mRNA, complete cds.
AF047419 - Homo sapiens epicardin mRNA, complete cds.
BC025697 - Homo sapiens transcription factor 21, mRNA (cDNA clone MGC:34534 IMAGE:5221575), complete cds.
JD102832 - Sequence 83856 from Patent EP1572962.
JD149536 - Sequence 130560 from Patent EP1572962.
AB464735 - Synthetic construct DNA, clone: pF1KB8881, Homo sapiens TCF21 gene for transcription factor 21, without stop codon, in Flexi system.
EU176222 - Synthetic construct Homo sapiens clone IMAGE:100006353; FLH167527.01X; RZPDo839F06250D transcription factor 21 (TCF21) gene, encodes complete protein.
EU176523 - Synthetic construct Homo sapiens clone IMAGE:100011355; FLH167523.01L; RZPDo839D07253D transcription factor 21 (TCF21) gene, encodes complete protein.
CR450293 - Homo sapiens full open reading frame cDNA clone RZPDo834B111D for gene TCF21, transcription factor 21; complete cds; without stopcodon.
BT019660 - Homo sapiens transcription factor 21 mRNA, complete cds.
JD403242 - Sequence 384266 from Patent EP1572962.
JD191309 - Sequence 172333 from Patent EP1572962.
JD477875 - Sequence 458899 from Patent EP1572962.
JD504341 - Sequence 485365 from Patent EP1572962.
JD450217 - Sequence 431241 from Patent EP1572962.
JD559516 - Sequence 540540 from Patent EP1572962.
JD295304 - Sequence 276328 from Patent EP1572962.
JD504508 - Sequence 485532 from Patent EP1572962.
JD538659 - Sequence 519683 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BHLHA23, E1P581, ENST00000367882.1, ENST00000367882.2, ENST00000367882.3, ENST00000367882.4, NM_003206, O43545, O43680, POD1, Q6ICV0, Q9BZ14, TCF21_HUMAN, uc318ggz.1, uc318ggz.2
UCSC ID: ENST00000367882.5_5
RefSeq Accession: NM_003206.4
Protein: O43680 (aka TCF21_HUMAN or TF21_HUMAN)

-  Gene Model Information
  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.