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... See more...

Aliases for TCF21 Gene

Aliases for TCF21 Gene

  • Transcription Factor 21 2 3 4 5
  • BHLHa23 2 3 4
  • POD1 2 3 4
  • Class A Basic Helix-Loop-Helix Protein 23 3 4
  • Podocyte-Expressed 1 3 4
  • Epicardin 3 4
  • Capsulin 3 4
  • Pod-1 3 4
  • BHLHA23 4
  • TCF-21 4
  • TCF21 5

External Ids for TCF21 Gene

Previous GeneCards Identifiers for TCF21 Gene

  • GC06P133833
  • 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 Uterine Corpus Endometrial Carcinoma and Pericoronitis. Among its related pathways are TGF-Beta Pathway and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include protein dimerization activity and proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific. An important paralog of this gene is MSC.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCF21 Gene

Genomics for TCF21 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TCF21 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TCF21 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TCF21

Top Transcription factor binding sites by QIAGEN in the TCF21 gene promoter:
  • MyoD
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for TCF21 Gene

Latest Assembly
chr6:133,889,113-133,895,553
(GRCh38/hg38)
Size:
6,441 bases
Orientation:
Plus strand

Previous Assembly
chr6:134,210,251-134,216,675
(GRCh37/hg19 by Entrez Gene)
Size:
6,425 bases
Orientation:
Plus strand

chr6:134,210,276-134,216,691
(GRCh37/hg19 by Ensembl)
Size:
6,416 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

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

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH

Suggested Antigen Peptide Sequences for TCF21 Gene

GenScript: Design optimal peptide antigens:
  • Podocyte-expressed 1 (TCF21_HUMAN)
genes like me logo Genes that share domains with TCF21: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TCF21 Gene

Function for TCF21 Gene

Molecular function for TCF21 Gene

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

Phenotypes From GWAS Catalog for TCF21 Gene

Gene Ontology (GO) - Molecular Function for TCF21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA,IDA 12493738
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA,ISS --
GO:0003677 DNA binding IEA --
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:
Targeted motifs for TCF21 Gene
HOMER Transcription Factor Regulatory Elements motif TCF21
  • Consensus sequence: NAACAGCTGG Submotif: canonical Cell Type: ArterySmoothMuscle GEO ID: GSE61369

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCF21

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
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TCF21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,IDA 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

PathCards logo

SuperPathways for TCF21 Gene

SuperPathway Contained pathways
1 Human Embryonic Stem Cell Pluripotency
.50
.50
2 ERK Signaling
.58
.49
3 CDK-mediated phosphorylation and removal of Cdc6
4 PAK Pathway
.36
5 TGF-Beta Pathway
.51
genes like me logo Genes that share pathways with TCF21: view

Pathways by source for TCF21 Gene

1 Sino Biological pathway for TCF21 Gene
7 Qiagen pathways for TCF21 Gene
  • Epithelial Adherens Junctions
  • Factors Promoting Cardiogenesis in Vertebrates
  • Human Embryonic Stem Cell Pluripotency
  • ILK Signaling
  • JNK Pathway

Gene Ontology (GO) - Biological Process for TCF21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,IDA 12493738
GO:0001657 ureteric bud development IEA,ISS --
GO:0001658 branching involved in ureteric bud morphogenesis IEA,ISS --
GO:0001763 morphogenesis of a branching structure IEA,ISS --
GO:0001822 kidney development IEA,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

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 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 TCF21

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

No ASD Table

Relevant External Links for TCF21 Gene

GeneLoc Exon Structure for
TCF21

Expression for TCF21 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TCF21

SOURCE GeneReport for Unigene cluster for TCF21 Gene:

Hs.78061

Evidence on tissue expression from TISSUES for TCF21 Gene

  • Pancreas(4.3)
  • Kidney(3)
  • Lung(2.8)
  • Intestine(2.7)
  • Heart(2.7)
  • Spleen(2.5)
  • Muscle(2.5)
  • Skin(2.5)
  • Blood(2.3)
  • Liver(2.3)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with TCF21: view

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 29 30
  • 99.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TCF21 29 30
  • 94.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TCF21 29 30
  • 94.04 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TCF21 30
  • 93 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tcf21 29
  • 90.88 (n)
Mouse
(Mus musculus)
Mammalia Tcf21 29 16 30
  • 90.69 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TCF21 30
  • 89 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TCF21 29 30
  • 81.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TCF21 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tcf21 29
  • 75.79 (n)
Zebrafish
(Danio rerio)
Actinopterygii tcf21 29 30
  • 71.84 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta HLH54F 30
  • 20 (a)
OneToMany
Species where no ortholog for TCF21 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TCF21: view image
Alliance of Genome Resources:
Additional Orthologs for TCF21

Paralogs for TCF21 Gene

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

  • TCF21_HUMAN
genes like me logo Genes that share paralogs with TCF21: view

Variants for TCF21 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TCF21 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs3777890 Benign: not provided 133,889,667(+) C/T
NM_003206.4(TCF21):c.270C>T (p.Ala90=)
SYNONYMOUS
rs61729591 Uncertain Significance: not provided 133,889,460(+) C/G
NM_003206.3(TCF21):c.63C>G (p.Asp21Glu)
MISSENSE
rs78733835 Benign: not provided 133,889,838(+) G/T
NM_003206.4(TCF21):c.441G>T (p.Pro147=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TCF21 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 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)

Additional Variant Information for TCF21 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for TCF21 Gene

MalaCards: The human disease database

(16) MalaCards diseases for TCF21 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search TCF21 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TCF21

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 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
  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
  3. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H … Samani NJ (Nature genetics 2011) 3 40
  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 40
  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 40

Products for TCF21 Gene

Sources for TCF21 Gene