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    TBX20 T-box transcription factor 20 [ Homo sapiens (human) ]

    Gene ID: 57057, updated on 4-Jan-2025

    Summary

    Official Symbol
    TBX20provided by HGNC
    Official Full Name
    T-box transcription factor 20provided by HGNC
    Primary source
    HGNC:HGNC:11598
    See related
    Ensembl:ENSG00000164532 MIM:606061; AllianceGenome:HGNC:11598
    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
    ASD4
    Summary
    This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
    Expression
    Biased expression in heart (RPKM 10.2), adrenal (RPKM 2.5) and 3 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TBX20 in Genome Data Viewer
    Location:
    7p14.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (35202430..35254100, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (35343508..35395177, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (35242042..35293711, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene dpy-19 like C-mannosyltransferase 1 Neighboring gene uncharacterized LOC105375228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:35096856-35097593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:35097594-35098330 Neighboring gene DPY19L2 pseudogene 1 Neighboring gene S100A11 pseudogene 2 Neighboring gene VISTA enhancer hs466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:35288961-35289528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:35289529-35290094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:35292632-35293208 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:35296083-35296894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:35296895-35297706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:35297707-35298518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:35298519-35299329 Neighboring gene uncharacterized LOC401324 Neighboring gene VISTA enhancer hs1659 Neighboring gene VISTA enhancer hs2286 Neighboring gene uncharacterized LOC105375230

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (10 hits/1373 screens)

    Associated conditions

    Description Tests
    Atrial septal defect 4
    MedGen: C1969657 OMIM: 611363 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-05-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated 2023-05-10)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Items 1 - 25 of 41
    Process Evidence Code Pubs
    involved_in aortic valve morphogenesis PubMed 
    involved_in atrial septum morphogenesis PubMed 
    involved_in atrioventricular canal development  
    involved_in atrioventricular valve development  
    involved_in blood circulation  
    involved_in branching involved in blood vessel morphogenesis  
    involved_in cardiac chamber formation  
    involved_in cardiac muscle tissue morphogenesis  
    involved_in cardiac right ventricle morphogenesis  
    involved_in cardiac septum development  
    involved_in cell fate specification  
    involved_in cell population proliferation  
    involved_in dorsal/ventral pattern formation  
    involved_in embryonic heart tube elongation  
    involved_in embryonic heart tube morphogenesis  
    involved_in endocardial cushion formation  
    involved_in endocardial cushion morphogenesis  
    involved_in endoderm formation  
    involved_in foramen ovale closure PubMed 
    involved_in heart looping  
    involved_in heart looping  
    involved_in lateral mesoderm formation  
    involved_in mesenchymal cell development  
    involved_in motor neuron migration  
    involved_in muscle contraction  
    involved_in negative regulation of DNA-templated transcription  
    involved_in negative regulation of SMAD protein signal transduction  
    involved_in negative regulation of transcription by RNA polymerase II  
    involved_in outflow tract septum morphogenesis PubMed 
    involved_in pericardium morphogenesis  
    acts_upstream_of positive regulation of BMP signaling pathway  
    involved_in positive regulation of apoptotic process  
    involved_in positive regulation of cardiac muscle cell proliferation  
    involved_in positive regulation of cell cycle process  
    involved_in positive regulation of epithelial to mesenchymal transition  
    involved_in positive regulation of transcription by RNA polymerase II  
    involved_in pulmonary valve formation  
    involved_in pulmonary vein morphogenesis PubMed 
    involved_in regulation of transcription by RNA polymerase II  
    involved_in tricuspid valve development  
    involved_in visceral motor neuron differentiation  
    Items 1 - 25 of 41
    Component Evidence Code Pubs
    located_in chromatin  
    located_in chromatin  
    located_in cytoplasm  
    is_active_in nucleus  
    located_in nucleus  

    General protein information

    Preferred Names
    T-box transcription factor TBX20
    Names
    T-box 20
    T-box protein 20

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_015805.1 RefSeqGene

      Range
      5001..56670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_755

    mRNA and Protein(s)

    1. NM_001077653.2NP_001071121.1  T-box transcription factor TBX20 isoform 1

      See identical proteins and their annotated locations for NP_001071121.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC005826, AC009531, DQ986374
      Consensus CDS
      CCDS43568.1
      UniProtKB/Swiss-Prot
      A4D1Y6, Q000T4, Q0IJ70, Q0VAS1, Q9UMR3, Q9Y2N5
      Related
      ENSP00000386170.3, ENST00000408931.4
      Conserved Domains (2) summary
      pfam00907
      Location:102288
      T-box; T-box
      cl26285
      Location:357409
      DUF853; Bacterial protein of unknown function (DUF853)
    2. NM_001166220.1NP_001159692.1  T-box transcription factor TBX20 isoform 2

      See identical proteins and their annotated locations for NP_001159692.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 3' end, as compared to variant 1. The resulting isoform (2) is C-terminal truncated, as compared to isoform 1.
      Source sequence(s)
      AC009531, BC120946
      UniProtKB/Swiss-Prot
      Q9UMR3
      Conserved Domains (1) summary
      pfam00907
      Location:102288
      T-box; T-box

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      35202430..35254100 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012456.2XP_016867945.1  T-box transcription factor TBX20 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      35343508..35395177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358685.1XP_054214660.1  T-box transcription factor TBX20 isoform X1

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