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

Gene ID: 57057, updated on 13-May-2024

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
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Genomic context

Location:
7p14.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (35202430..35254100, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (35343508..35395177, complement)
105.20220307 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: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in aortic valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in atrial septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in atrioventricular canal development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in atrioventricular valve development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in blood circulation IEA
Inferred from Electronic Annotation
more info
 
involved_in branching involved in blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac chamber formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac muscle tissue morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac right ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac septum development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in dorsal/ventral pattern formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic heart tube elongation IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic heart tube morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endoderm formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in foramen ovale closure IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heart looping IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lateral mesoderm formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mesenchymal cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in motor neuron migration IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of SMAD protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in outflow tract septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pericardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of positive regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell cycle process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in pulmonary valve formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pulmonary vein morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in tricuspid valve development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in vasculogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in visceral motor neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
part_of chromatin IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

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_2023_10

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_020417.1: Suppressed sequence

    Description
    NM_020417.1: This RefSeq was permanently suppressed because the represented transcript and protein is now considered to be incomplete.