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Gene

TBX1

T-box transcription factor 1

Summary

Cytogenetic location
22q11.21
Coordinates
Chromosome 22: 19,760,778–19,767,334 (GRCh38)
Exons
7 exons across 6.6 kb
Protein
504 amino acids
Inheritance
Autosomal dominant
Also known as
CATCH22
Previous symbols
VCF
MANE Select transcript
ENST00000649276.2NM_001379200.1
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

  • 22q11.2 Deletion Syndrome

    • 22q11.2 deletion syndrome (DiGeorge / velocardiofacial syndrome)Autosomal dominant

      A deletion of about 1.5 to 3 million bases on chromosome 22, including the TBX1 gene, that can cause congenital heart disease, low T-cell numbers, low calcium, palate differences and an increased risk of psychiatric conditions including schizophrenia.

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

      Established guidelines recommend calcium, immune, cardiac and mental-health monitoring, and each child of a carrier has a 50% chance of inheriting the deletion.

Broader groupings

  • Other Inborn Errors of Immunity

    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

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

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

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 TBX1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 22, with a bracket where TBX1 sits. TBX1 and 22 genes near it on chromosome 22, from 19,264,056 to 20,264,055.Chromosome 2222q11.21p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3319.4 Mb19.6 Mb19.8 Mb20 Mb20.2 MbCLTCL1: 19,179,319–19,291,774, reverse strandCLTCL1HIRA: 19,330,185–19,447,450, reverse strandHIRAC22orf39: 19,351,368–19,447,714, reverse strandC22orf39MRPL40: 19,431,837–19,436,078, forward strandMRPL40UFD1: 19,449,899–19,479,695, reverse strandUFD1CDC45: 19,479,457–19,520,612, forward strandCDC45CLDN5: 19,517,452–19,527,545, reverse strandCLDN5SEPTIN5: 19,714,117–19,724,781, forward strandSEPTIN5: 19,717,220–19,724,772, forward strandGP1BB: 19,723,539–19,724,776, forward strandGP1BBTBX1: 19,760,778–19,767,334, forward strandTBX1GNB1L: 19,781,243–19,854,947, reverse strandGNB1LRTL10: 19,846,138–19,854,939, reverse strandRTL10TXNRD2: 19,875,517–19,941,934, reverse strandTXNRD2COMT: 19,941,371–19,969,975, forward strandCOMTARVCF: 19,969,866–20,016,862, reverse strandARVCFTANGO2: 20,016,615–20,067,962, forward strandTANGO2DGCR8: 20,080,025–20,111,877, forward strandDGCR8TRMT2A: 20,111,866–20,117,392, reverse strandTRMT2ARANBP1: 20,115,877–20,128,037, forward strandRANBP1ZDHHC8: 20,129,456–20,148,007, forward strandZDHHC8CCDC188: 20,146,381–20,151,059, reverse strandRTN4R: 20,241,415–20,283,246, reverse strandRTN4RDiagram of TBX1: 7 exons on the forward strand of chromosome 22Exon 1: 11 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 7: 10 known disease-causing sitesExon 1: 19,760,778–19,761,280, 503 basesExon 2: 19,763,241–19,763,342, 102 basesExon 3: 19,764,155–19,764,326, 172 basesExon 4: 19,764,958–19,765,113, 156 basesExon 5: 19,765,758–19,765,825, 68 basesExon 6: 19,765,902–19,766,002, 101 basesExon 7: 19,766,389–19,767,334, 946 bases12345675′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 kb of the gene's 6.6 kb; 1,515 of those bases code for the protein.

How a genome test reads TBX1

34

positions in TBX1 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 6.6 kb of TBX1, introns included, not only the 2 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.). TBX1 gene: T-box transcription factor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/tbx1

Vancouver

Dante Labs. TBX1 gene: T-box transcription factor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tbx1

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