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Gene

TBX22

T-box transcription factor 22

Summary

Cytogenetic location
Xq21.1
Coordinates
Chromosome X: 80,014,753–80,031,774 (GRCh38)
Exons
9 exons across 17 kb
Protein
520 amino acids
Previous symbols
CPX, CLPA
MANE Select transcript
ENST00000373296.8NM_001109878.2
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 report relevant to this gene

  • Hereditary Orofacial Clefting

    • X-linked Cleft Palate with or without Ankyloglossia

      Cleft palate and/or tongue-tie caused by variants in the TBX22 gene on the X chromosome, usually more severe in males.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

How TBX22 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where TBX22 sits. TBX22 and 1 gene near it on chromosome X, from 79,523,264 to 80,523,263.Chromosome XXq21.1p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2879.6 Mb79.8 Mb80 Mb80.2 Mb80.4 MbTBX22: 80,014,753–80,031,774, forward strandTBX22TENT5D: 80,335,504–80,445,311, forward strandTENT5DDiagram of TBX22: 9 exons on the forward strand of chromosome XExon 2: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 1: 80,014,753–80,014,887, 135 basesExon 2: 80,022,268–80,022,444, 177 basesExon 3: 80,023,060–80,023,240, 181 basesExon 4: 80,024,063–80,024,164, 102 basesExon 5: 80,025,603–80,025,777, 175 basesExon 6: 80,026,704–80,026,868, 165 basesExon 7: 80,027,256–80,027,320, 65 basesExon 8: 80,027,991–80,028,076, 86 basesExon 9: 80,030,498–80,031,774, 1,277 bases1234567895′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 2.4 kb of the gene's 17 kb; 1,563 of those bases code for the protein.

How a genome test reads TBX22

4

positions in TBX22 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 17 kb of TBX22, introns included, not only the 2.4 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.
  • 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.). TBX22 gene: T-box transcription factor 22. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbx22

Vancouver

Dante Labs. TBX22 gene: T-box transcription factor 22 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbx22

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