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Gene

TBX4

T-box transcription factor 4

Summary

Cytogenetic location
17q23.2
Coordinates
Chromosome 17: 61,452,422–61,485,110 (GRCh38)
Exons
9 exons across 32.7 kb
Protein
546 amino acids
MANE Select transcript
ENST00000644296.1NM_001321120.2
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

No Genome Test report reads TBX4 yet. The test sequences your whole genome, so your data includes it all the same.

How TBX4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 17, with a bracket where TBX4 sits. TBX4 and 6 genes near it on chromosome 17, from 60,968,766 to 61,968,765.Chromosome 1717q23.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.361 Mb61.2 Mb61.4 Mb61.6 Mb61.8 MbBCAS3: 60,677,453–61,392,838, forward strandBCAS3TBX2: 61,399,630–61,409,466, forward strandTBX2TBX4: 61,452,422–61,485,110, forward strandTBX4NACA2: 61,590,421–61,591,219, reverse strandNACA2BRIP1: 61,679,139–61,863,561, reverse strandBRIP1INTS2: 61,865,367–61,928,016, reverse strandINTS2MED13: 61,942,546–62,065,365, reverse strandMED13Diagram of TBX4: 9 exons on the forward strand of chromosome 17Exon 2: 4 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 1: 61,452,422–61,452,577, 156 basesExon 2: 61,456,488–61,456,676, 189 basesExon 3: 61,457,537–61,457,631, 95 basesExon 4: 61,465,819–61,465,938, 120 basesExon 5: 61,467,510–61,467,657, 148 basesExon 6: 61,478,627–61,478,779, 153 basesExon 7: 61,479,881–61,479,969, 89 basesExon 8: 61,480,090–61,480,319, 230 basesExon 9: 61,482,897–61,485,110, 2,214 bases1246895′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 3.4 kb of the gene's 32.7 kb; 1,641 of those bases code for the protein.

How a genome test reads TBX4

36

positions in TBX4 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 32.7 kb of TBX4, introns included, not only the 3.4 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.
  • 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.). TBX4 gene: T-box transcription factor 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbx4

Vancouver

Dante Labs. TBX4 gene: T-box transcription factor 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbx4

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