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Gene

TBX5

T-box transcription factor 5

Summary

Cytogenetic location
12q24.21
Coordinates
Chromosome 12: 114,353,911–114,406,144 (GRCh38)
Exons
9 exons across 52.2 kb
Protein
518 amino acids
Inheritance
Autosomal dominant
Previous symbols
HOS
MANE Select transcript
ENST00000405440.7NM_181486.4
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 report relevant to this gene

  • Inherited Congenital Heart Defects

    • Holt-Oram SyndromeAutosomal dominant

      A condition caused by changes in TBX5 that combines differences of the hands and arms with heart defects, most often holes between the heart chambers and conduction problems.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports heart imaging, ECG monitoring for conduction problems, and family counselling.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How TBX5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where TBX5 sits. TBX5 and 2 genes near it on chromosome 12, from 113,880,028 to 114,880,027.Chromosome 1212q24.21p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33114 Mb114.2 Mb114.4 Mb114.6 Mb114.8 MbRBM19: 113,795,725–113,966,367, reverse strandRBM19TBX5: 114,353,911–114,406,144, reverse strandTBX5TBX3: 114,670,255–114,684,414, reverse strandTBX3Diagram of TBX5: 9 exons on the reverse strand of chromosome 12Exon 9: 5 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 9: 114,353,911–114,356,106, 2,196 basesExon 8: 114,366,165–114,366,391, 227 basesExon 7: 114,385,476–114,385,567, 92 basesExon 6: 114,394,741–114,394,893, 153 basesExon 5: 114,398,573–114,398,720, 148 basesExon 4: 114,399,513–114,399,632, 120 basesExon 3: 114,401,826–114,401,920, 95 basesExon 2: 114,403,752–114,403,936, 185 basesExon 1: 114,405,628–114,406,144, 517 bases9876543215′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 3.7 kb of the gene's 52.2 kb; 1,557 of those bases code for the protein.

How a genome test reads TBX5

33

positions in TBX5 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 52.2 kb of TBX5, introns included, not only the 3.7 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.). TBX5 gene: T-box transcription factor 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbx5

Vancouver

Dante Labs. TBX5 gene: T-box transcription factor 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbx5

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