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    TCF21 transcription factor 21 [ Homo sapiens (human) ]

    Gene ID: 6943, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TCF21provided by HGNC
    Official Full Name
    transcription factor 21provided by HGNC
    Primary source
    HGNC:HGNC:11632
    See related
    Ensembl:ENSG00000118526 MIM:603306; AllianceGenome:HGNC:11632
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    POD1; bHLHa23
    Summary
    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]
    Expression
    Broad expression in placenta (RPKM 32.6), spleen (RPKM 25.0) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TCF21 in Genome Data Viewer
    Location:
    6q23.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (133889113..133895537)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (135077847..135084271)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (134210251..134216675)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene TCF21 antisense RNA inducing promoter demethylation Neighboring gene uncharacterized LOC124901402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17554 Neighboring gene long intergenic non-protein coding RNA 1312 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:134175312-134176050 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:134209799-134210712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:134211964-134212728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:134213614-134214222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17555 Neighboring gene umcharacterized LOC128092253 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90026 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25081 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90037 Neighboring gene TATA-box binding protein like 1 Neighboring gene epithelial splicing regulatory protein 1 pseudogene Neighboring gene solute carrier family 2 member 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. TCF21 hypermethylation in genetically quiescent clear cell sarcoma of the kidney. Gooskens SL, et al. Oncotarget, 2015 Jun 30. PMID 26158413, Free PMC Article
    2. TCF21 inhibits tumor-associated angiogenesis and suppresses the growth of cholangiocarcinoma by targeting PI3K/Akt and ERK signaling. Duan HX, et al. Am J Physiol Gastrointest Liver Physiol, 2019 Jun 1. PMID 30920845
    3. TCF21 inhibits proliferation and chemoresistance through the AKT pathway in human gastric cancer. Yang Z, et al. Gene, 2019 Jan 15. PMID 30296564
    4. Expression of Transcription Factor 21 (TCF21) and Upregulation Its Level Inhibits Invasion and Metastasis in Esophageal Squamous Cell Carcinoma. Chen Y, et al. Med Sci Monit, 2018 Jun 17. PMID 29909422, Free PMC Article
    5. A Novel Target of p53, TCF21, Can Respond to Hypoxia by MAPK Pathway Inactivation in Uterine Corpus Endometrial Carcinoma. Li Q, et al. DNA Cell Biol, 2018 May. PMID 29608330

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcription factor 21 rs12190287 polymorphism is related to stable angina and ST elevation myocardial infarction in a Chinese Population.
      Title: Transcription factor 21 rs12190287 polymorphism is related to stable angina and ST elevation myocardial infarction in a Chinese Population.
    2. TCF21 rs2327429 and TCF21 rs12190287 are associated with colorectal cancer in a Chinese population.
      Title: TCF21 rs2327429 and TCF21 rs12190287 are associated with colorectal cancer in a Chinese population.
    3. Transcription factor 21 gene and prognosis in a coronary population.
      Title: Transcription factor 21 gene and prognosis in a coronary population.
    4. Transcription factor 21 accelerates vascular calcification in mice by activating the IL-6/STAT3 signaling pathway and the interplay between VSMCs and ECs.
      Title: Transcription factor 21 accelerates vascular calcification in mice by activating the IL-6/STAT3 signaling pathway and the interplay between VSMCs and ECs.
    5. N-type calcium channel v2.2 is a target of TCF21 in adrenocortical carcinomas.
      Title: N-type calcium channel v2.2 is a target of TCF21 in adrenocortical carcinomas.
    6. Immunohistological score of transcription factor 21 had a positive correlation with its urinary excretion and proteinuria in immunoglobulin A nephropathy.
      Title: Immunohistological score of transcription factor 21 had a positive correlation with its urinary excretion and proteinuria in immunoglobulin A nephropathy.
    7. Relationships among Immune Score, <em>TCF21</em> Methylation, Risk-factor Level, and Prognosis in Prostate Cancer.
      Title: Relationships among Immune Score, <em>TCF21</em> Methylation, Risk-factor Level, and Prognosis in Prostate Cancer.
    8. Increased SUMOylation of TCF21 improves its stability and function in human endometriotic stromal cellsdagger.
      Title: Increased SUMOylation of TCF21 improves its stability and function in human endometriotic stromal cells†.
    9. TCF21 regulates miR-10a-5p/LIN28B signaling to block the proliferation and invasion of melanoma cells.
      Title: TCF21 regulates miR-10a-5p/LIN28B signaling to block the proliferation and invasion of melanoma cells.
    10. Studies on the Role of the Transcription Factor Tcf21 in the Transdifferentiation of Parietal Epithelial Cells into Podocyte-Like Cells.
      Title: Studies on the Role of the Transcription Factor Tcf21 in the Transdifferentiation of Parietal Epithelial Cells into Podocyte-Like Cells.
    Submit: New GeneRIF Correction See all GeneRIFs (53)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables E-box binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables bHLH transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables bHLH transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables histone deacetylase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nuclear androgen receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Sertoli cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in branching involved in ureteric bud morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in branchiomeric skeletal muscle development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in bronchiole development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in developmental process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in diaphragm development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in embryonic digestive tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in gland development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glomerulus development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lung alveolus development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lung morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lung vasculature development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in metanephric glomerular capillary formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in metanephric mesenchymal cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in morphogenesis of a branching structure ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of androgen receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in reproductive structure development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in respiratory system development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in roof of mouth development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sex determination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spleen development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ureteric bud development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in vasculature development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transcription factor 21
    Names
    capsulin
    class A basic helix-loop-helix protein 23
    epicardin
    pod-1
    podocyte-expressed 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032121.1 RefSeqGene

      Range
      5001..11417
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_446

    mRNA and Protein(s)

    1. NM_003206.4 → NP_003197.2  transcription factor 21

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF035718, AL356109, BU688835
      Consensus CDS
      CCDS5167.1
      UniProtKB/Swiss-Prot
      E1P581, O43545, O43680, Q6ICV0, Q9BZ14
      Related
      ENSP00000356857.5, ENST00000367882.5
      Conserved Domains (1) summary
      cd19704
      Location:77 → 140
      bHLH_TS_TCF21_capsulin; basic helix-loop-helix (bHLH) domain found in transcription factor 21 (TCF-21) and similar proteins

    2. NM_198392.3 → NP_938206.1  transcription factor 21

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL356109, AL550251, BC025697
      Consensus CDS
      CCDS5167.1
      UniProtKB/Swiss-Prot
      E1P581, O43545, O43680, Q6ICV0, Q9BZ14
      Related
      ENSP00000237316.3, ENST00000237316.3
      Conserved Domains (1) summary
      cd19704
      Location:77 → 140
      bHLH_TS_TCF21_capsulin; basic helix-loop-helix (bHLH) domain found in transcription factor 21 (TCF-21) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      133889113..133895537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      135077847..135084271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43680.2 GenPept UniProtKB/Swiss-Prot:O43680

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools