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TCF21 Gene(Protein Coding)

Transcription Factor 21

GCID:
GC06P133833
GIFtS:
45
Genes Participants
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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 PAK Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include protein dimerization activity and transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA 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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for TCF21 Gene

Promoters and enhancers for TCF21 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06I133887 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 559.6 +3.2 3249 8.8 PKNOX1 NFIB BMI1 ZNF2 ZNF335 GLIS2 ZSCAN5C EGR2 ZNF398 ZFP69B TCF21 TARID TBPL1 SLC2A12
GH06I133837 Enhancer 1.1 Ensembl ENCODE 18 -51.1 -51088 0.9 DMAP1 ZNF2 ZNF48 ZNF143 KLF7 ATF7 KLF13 SP3 REST ZNF518A TCF21 LINC01312 TARID
GH06I133568 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.4 -319.6 -319604 1.6 PKNOX1 SIN3A RAD21 RFX5 YY1 ZNF335 ZNF213 ARID2 ZNF366 ZNF391 TCF21 TARID ENSG00000272428 FTH1P26
GH06I133924 Enhancer 0.8 ENCODE 9.9 +35.0 35027 0.2 ELF3 FOXA2 KLF17 SIN3A ZNF2 ZSCAN9 RAD21 RFX5 ARID2 ZSCAN5C TBPL1 SLC2A12 TCF21 GC06M133913
GH06I134097 Enhancer 0.6 ENCODE 10.6 +208.2 208187 0.1 CTCF ZNF654 REST ZNF2 RAD21 CC2D1A ZNF316 ZNF213 ARID2 SMC3 TBPL1 SLC2A12 TCF21 SGK1 HMGA1P7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TCF21 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TCF21 gene promoter:

Genomic Locations for TCF21 Gene

Genomic Locations for TCF21 Gene
chr6:133,889,121-133,895,553
(GRCh38/hg38)
Size:
6,433 bases
Orientation:
Plus strand
chr6:134,210,259-134,216,691
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for TCF21 Gene

Proteins for TCF21 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

InterPro:
Blocks:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 proximal promoter sequence-specific DNA binding ISS --
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA 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

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

Clone Products

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

Nucleus.

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 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

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 by RNA polymerase II 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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for TCF21 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TCF21 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(124) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TCF21 Gene

Transcription factor 21:
Representative Sequences:

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for TCF21 Gene
mRNA expression by BioGPS for TCF21 GenemRNA expression by GTEx 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)
  • Kidney(2.6)
  • Lung(2.6)
  • Heart(2.1)
  • Spleen(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 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

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for TCF21 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs61729591 uncertain-significance, not provided 133,889,460(+) C/A/G coding_sequence_variant, missense_variant
rs1000160512 -- 133,888,306(+) T/C upstream_transcript_variant
rs1000435156 -- 133,887,827(+) G/A upstream_transcript_variant
rs1000572681 -- 133,892,373(+) G/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000840910 -- 133,892,615(+) C/T downstream_transcript_variant, genic_downstream_transcript_variant, 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)

Additional Variant Information for TCF21 Gene

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

SNP Genotyping and Copy Number Assay Products

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
  • cmd1j
deafness, autosomal dominant 10
  • dfna10
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  3. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H … Samani NJ (Nature genetics 2011) 3 44 58
  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 44 58
  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 44 58

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Sources for TCF21 Gene

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