Skip to content
Use your HSA or FSA funds

Gene

TBX20

T-box transcription factor 20

Summary

Cytogenetic location
7p14.2
Coordinates
Chromosome 7: 35,202,430–35,254,100 (GRCh38)
Exons
8 exons across 51.7 kb
Protein
447 amino acids
MANE Select transcript
ENST00000408931.4NM_001077653.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Dilated Cardiomyopathy

    • Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.

      • ClinGen rates the link strong
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.

  • Inherited Congenital Heart Defects

    • Atrial Septal Defect

      A hole between the upper chambers of the heart; inherited forms are caused by genes such as NKX2-5, GATA4, TBX20, MYH6 and ACTC1, and NKX2-5 forms also carry a risk of progressive heart block.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports heart imaging and, for NKX2-5, regular ECG checks.

How TBX20 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where TBX20 sits. TBX20 and 3 genes near it on chromosome 7, from 34,728,265 to 35,728,264.Chromosome 77p14.2p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.334.8 Mb35 Mb35.2 Mb35.4 Mb35.6 MbNPSR1: 34,658,218–34,878,332, forward strandNPSR1DPY19L1: 34,921,469–35,038,271, reverse strandDPY19L1TBX20: 35,202,430–35,254,100, reverse strandTBX20HERPUD2: 35,632,659–35,697,459, reverse strandHERPUD2Diagram of TBX20: 8 exons on the reverse strand of chromosome 7Exon 3: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 8: 35,202,430–35,202,770, 341 basesExon 7: 35,204,470–35,204,582, 113 basesExon 6: 35,231,504–35,231,580, 77 basesExon 5: 35,240,879–35,241,037, 159 basesExon 4: 35,244,949–35,245,057, 109 basesExon 3: 35,248,677–35,248,841, 165 basesExon 2: 35,249,951–35,250,203, 253 basesExon 1: 35,253,494–35,254,100, 607 bases876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.8 kb of the gene's 51.7 kb; 1,344 of those bases code for the protein.

How a genome test reads TBX20

5

positions in TBX20 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 51.7 kb of TBX20, introns included, not only the 1.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). TBX20 gene: T-box transcription factor 20. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbx20

Vancouver

Dante Labs. TBX20 gene: T-box transcription factor 20 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbx20

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test