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

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.
Title: Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.
Genetic and functional variants of the TBX20 gene promoter in dilated cardiomyopathy.
Title: Genetic and functional variants of the TBX20 gene promoter in dilated cardiomyopathy.
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy.
Title: TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy.
Epigenetic Evaluation of the TBX20 Gene and Environmental Risk Factors in Mexican Paediatric Patients with Congenital Septal Defects.
Title: Epigenetic Evaluation of the TBX20 Gene and Environmental Risk Factors in Mexican Paediatric Patients with Congenital Septal Defects.
TBX20 Improves Contractility and Mitochondrial Function During Direct Human Cardiac Reprogramming.
Title: TBX20 Improves Contractility and Mitochondrial Function During Direct Human Cardiac Reprogramming.
TBX20 inhibits colorectal cancer tumorigenesis by impairing NHEJ-mediated DNA repair.
Title: TBX20 inhibits colorectal cancer tumorigenesis by impairing NHEJ-mediated DNA repair.
Familial cardiac septal defect due to a novel nine-base deletion in TBX20.
Title: Familial cardiac septal defect due to a novel nine-base deletion in TBX20.
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
Title: Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.
Title: The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.
accumulative evidence for TBX20 involvement in Bicuspid aortic valve /aortic aneurysms aetiology underlines the importance of this transcription factor in cardiovascular disease.
Title: Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S484 (e-PCR), detects polymorphism
- UniSTS:64041

GDB:3750008 (e-PCR)
- UniSTS:51012

TBX20 (e-PCR)
- UniSTS:503640

G16027 (e-PCR)
- UniSTS:12927

D7S3242 (e-PCR)
- UniSTS:254161

D7S484 (e-PCR), detects polymorphism
- UniSTS:72183

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation 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	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

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
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in 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

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Preferred Names: T-box transcription factor TBX20

Names: T-box 20; T-box protein 20

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

NG_015805.1 RefSeqGene

Range

5001..56670

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_755

mRNA and Protein(s)

NM_001077653.2 → NP_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:102 → 288

T-box; T-box

cl26285
Location:357 → 409

DUF853; Bacterial protein of unknown function (DUF853)
NM_001166220.1 → NP_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:102 → 288

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

35202430..35254100 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

35343508..35395177 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.