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Aliases for TCF21 Gene

Aliases for TCF21 Gene

  • Transcription Factor 21 2 3 5
  • Class A Basic Helix-Loop-Helix Protein 23 3 4
  • Podocyte-Expressed 1 3 4
  • Epicardin 3 4
  • Capsulin 3 4
  • BHLHa23 3 4
  • Pod-1 3 4
  • POD1 3 4
  • TCF-21 4

External Ids for TCF21 Gene

Previous GeneCards Identifiers for TCF21 Gene

  • GC06P134057
  • GC06P134190
  • GC06P134251
  • GC06P131779

Summaries for TCF21 Gene

Entrez Gene Summary for TCF21 Gene

  • TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TCF21 Gene

TCF21 (Transcription Factor 21) is a Protein Coding gene. Diseases associated with TCF21 include Cardiomyopathy, Dilated, 1J and Deafness, Autosomal Dominant 10. Among its related pathways are Human Embryonic Stem Cell Pluripotency and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include protein dimerization activity and transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is MSC.

UniProtKB/Swiss-Prot for TCF21 Gene

  • 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.

Gene Wiki entry for TCF21 Gene

Additional gene information for TCF21 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCF21 Gene

Genomics for TCF21 Gene

Regulatory Elements for TCF21 Gene

Enhancers for TCF21 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H133837 1.2 Ensembl ENCODE 18 -51.1 -51088 0 RB1 ZNF76 DMAP1 ZNF2 RAD21 ZNF138 ZNF143 KLF7 ATF7 ZNF654 TCF21 LINC01312
GH06H133568 1.5 FANTOM5 Ensembl ENCODE 10.4 -319.6 -319605 1 TBP PKNOX1 SIN3A RAD21 RFX5 YY1 ZNF366 ZNF143 FOS ZNF391 TCF21 TARID ENSG00000272428 FTH1P26
GH06H133887 1.4 Ensembl ENCODE dbSUPER 9.6 +3.2 3249 8 PKNOX1 NFIB BMI1 ZNF2 GLIS2 ZSCAN5C EGR2 ZNF398 ZFP69B KLF16 TBPL1 SLC2A12 TCF21 TARID
GH06H133924 0.8 ENCODE 9.9 +35.0 35027 0 ELF3 CTCF FOXA2 ETV1 KLF17 MAX ZNF2 ZSCAN9 RAD21 RFX5 TBPL1 SLC2A12 TCF21 GC06M133913
GH06H134034 1.3 Ensembl ENCODE dbSUPER 5.2 +146.5 146539 2 NFIB FEZF1 TCF12 SCRT2 ZNF680 ZBTB2 ZEB2 ZNF592 NFIC PRDM6 TCF21 SLC2A12 LOC100421250
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TCF21 on UCSC Golden Path with GeneCards custom track

Genomic Location for TCF21 Gene

Chromosome:
6
Start:
133,889,121 bp from pter
End:
133,895,553 bp from pter
Size:
6,433 bases
Orientation:
Plus strand

Genomic View for TCF21 Gene

Genes around TCF21 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCF21 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCF21 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCF21 Gene

Proteins for TCF21 Gene

  • Protein details for TCF21 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43680-TCF21_HUMAN
    Recommended name:
    Transcription factor 21
    Protein Accession:
    O43680
    Secondary Accessions:
    • E1P581
    • O43545
    • Q6ICV0
    • Q9BZ14

    Protein attributes for TCF21 Gene

    Size:
    179 amino acids
    Molecular mass:
    19715 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3 and binds the E box (5-CANNTG-3).

neXtProt entry for TCF21 Gene

Post-translational modifications for TCF21 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TCF21 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TCF21 Gene

Domains & Families for TCF21 Gene

Gene Families for TCF21 Gene

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

Protein Domains for TCF21 Gene

Suggested Antigen Peptide Sequences for TCF21 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TCF21: view

No data available for UniProtKB/Swiss-Prot for TCF21 Gene

Function for TCF21 Gene

Molecular function for TCF21 Gene

GENATLAS Biochemistry:
transcription factor 21,murine Pod-1 homolog,mesoderm specific,expressed in mesenchymal and glomerular epithelial cells in the developing kidney
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for TCF21 Gene

Gene Ontology (GO) - Molecular Function for TCF21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding ISS --
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 12493738
GO:0003677 DNA binding IEA --
GO:0042826 histone deacetylase binding IEA --
GO:0043425 bHLH transcription factor binding IPI 12493738
genes like me logo Genes that share ontologies with TCF21: view
genes like me logo Genes that share phenotypes with TCF21: view

Animal Models for TCF21 Gene

MGI Knock Outs for TCF21:

Animal Model Products

CRISPR Products

Targeted motifs for TCF21 Gene
HOMER Transcription Factor Regulatory Elements motif TCF21
  • Consensus sequence: NAACAGCTGG Submotif: canonical Cell Type: ArterySmoothMuscle GEO ID: GSE61369

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TCF21
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for TCF21 Gene

Localization for TCF21 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCF21 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 TCF21 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for TCF21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 12493738
genes like me logo Genes that share ontologies with TCF21: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TCF21 Gene

Pathways & Interactions for TCF21 Gene

genes like me logo Genes that share pathways with TCF21: view

Gene Ontology (GO) - Biological Process for TCF21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 12493738
GO:0001657 ureteric bud development ISS --
GO:0001658 branching involved in ureteric bud morphogenesis ISS --
GO:0001763 morphogenesis of a branching structure ISS --
GO:0001822 kidney development ISS --
genes like me logo Genes that share ontologies with TCF21: view

No data available for SIGNOR curated interactions for TCF21 Gene

Drugs & Compounds for TCF21 Gene

No Compound Related Data Available

Transcripts for TCF21 Gene

mRNA/cDNA for TCF21 Gene

Unigene Clusters for TCF21 Gene

Transcription factor 21:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TCF21
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TCF21 Gene

No ASD Table

Relevant External Links for TCF21 Gene

GeneLoc Exon Structure for
TCF21
ECgene alternative splicing isoforms for
TCF21

Expression for TCF21 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TCF21 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TCF21 Gene

This gene is overexpressed in Lung (x7.6), Ovary (x6.3), Spleen (x4.7), and Kidney - Cortex (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of TCF21 Gene:

TCF21

SOURCE GeneReport for Unigene cluster for TCF21 Gene:

Hs.78061

Evidence on tissue expression from TISSUES for TCF21 Gene

  • Pancreas(4)
  • Lung(2.6)
  • Kidney(2.5)
  • Heart(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with TCF21: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TCF21 Gene

Orthologs for TCF21 Gene

This gene was present in the common ancestor of animals.

Orthologs for TCF21 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCF21 33 34
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia TCF21 33 34
  • 94.79 (n)
cow
(Bos Taurus)
Mammalia TCF21 33 34
  • 94.04 (n)
oppossum
(Monodelphis domestica)
Mammalia TCF21 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tcf21 33
  • 90.88 (n)
mouse
(Mus musculus)
Mammalia Tcf21 33 16 34
  • 90.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TCF21 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves TCF21 33 34
  • 81.19 (n)
lizard
(Anolis carolinensis)
Reptilia TCF21 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tcf21 33
  • 75.79 (n)
zebrafish
(Danio rerio)
Actinopterygii tcf21 33 34
  • 71.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta HLH54F 34
  • 20 (a)
OneToMany
Species where no ortholog for TCF21 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TCF21 Gene

ENSEMBL:
Gene Tree for TCF21 (if available)
TreeFam:
Gene Tree for TCF21 (if available)

Paralogs for TCF21 Gene

Paralogs for TCF21 Gene

(4) SIMAP similar genes for TCF21 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TCF21: view

Variants for TCF21 Gene

Sequence variations from dbSNP and Humsavar for TCF21 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs61729591 Uncertain significance 133,889,460(+) TGTGA(A/C/G)GGGTT upstream-variant-2KB, reference, missense
rs1000160512 -- 133,888,306(+) GTGCA(C/T)CACAA intron-variant, upstream-variant-2KB
rs1000435156 -- 133,887,827(+) AGGGG(A/G)AAAGC intron-variant, upstream-variant-2KB
rs1000572681 -- 133,892,373(+) AGATA(G/T)AAGAA intron-variant
rs1000840910 -- 133,892,615(+) AAACT(C/T)CACCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TCF21 Gene

Variant ID Type Subtype PubMed ID
esv34122 CNV loss 18971310

Variation tolerance for TCF21 Gene

Residual Variation Intolerance Score: 51.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.51; 64.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TCF21 Gene

Human Gene Mutation Database (HGMD)
TCF21
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCF21

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCF21 Gene

Disorders for TCF21 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TCF21 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1j
  • dilated cardiomyopathy 1j
deafness, autosomal dominant 10
  • autosomal dominant nonsyndromic deafness 10
- elite association - COSMIC cancer census association via MalaCards
Search TCF21 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TCF21

Genetic Association Database (GAD)
TCF21
Human Genome Epidemiology (HuGE) Navigator
TCF21
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TCF21
genes like me logo Genes that share disorders with TCF21: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TCF21 Gene

Publications for TCF21 Gene

  1. epicardin: A novel basic helix-loop-helix transcription factor gene expressed in epicardium, branchial arch myoblasts, and mesenchyme of developing lung, gut, kidney, and gonads. (PMID: 9733105) Robb L … Harvey RP (Developmental dynamics : an official publication of the American Association of Anatomists 1998) 3 4 22 60
  2. Pod-1, a mesoderm-specific basic-helix-loop-helix protein expressed in mesenchymal and glomerular epithelial cells in the developing kidney. (PMID: 9507058) Quaggin SE … Igarashi P (Mechanisms of development 1998) 2 3 22 60
  3. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H … Samani NJ (Nature genetics 2011) 3 45 60
  4. 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 45 60
  5. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 45 60

Products for TCF21 Gene

Sources for TCF21 Gene

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