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Gene

TBR1

T-box brain transcription factor 1

Summary

Cytogenetic location
2q24.2
Coordinates
Chromosome 2: 161,416,297–161,425,870 (GRCh38)
Exons
6 exons across 9.6 kb
Protein
682 amino acids
MANE Select transcript
ENST00000389554.8NM_006593.4
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

  • Autism Spectrum Disorder

    • A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.

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

      Early intervention services, behavioral therapy, speech and occupational therapy, psychopharmacology for associated features

    • Autism, susceptibility to (single-gene forms)

      Single-gene contributions to autism, including variants in NLGN3, NLGN4X, PTCHD1, SHANK2, TBR1 and CHD8.

      • 1 GenCC submitter rates it definitive or strong

How TBR1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 2, with a bracket where TBR1 sits. TBR1 and 3 genes near it on chromosome 2, from 160,921,084 to 161,921,083.Chromosome 22q24.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3161 Mb161.2 Mb161.4 Mb161.6 Mb161.8 MbTANK: 161,136,908–161,236,568, forward strandTANKPSMD14: 161,308,408–161,411,726, forward strandPSMD14TBR1: 161,416,297–161,425,870, forward strandTBR1SLC4A10: 161,424,332–161,985,329, forward strandSLC4A10Diagram of TBR1: 6 exons on the forward strand of chromosome 2Exon 1: 8 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 11 known disease-causing sitesExon 1: 161,416,297–161,417,102, 806 basesExon 2: 161,417,676–161,417,830, 155 basesExon 3: 161,418,201–161,418,322, 122 basesExon 4: 161,418,892–161,419,050, 159 basesExon 5: 161,420,196–161,420,257, 62 basesExon 6: 161,423,369–161,425,870, 2,502 bases1234565′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 3.8 kb of the gene's 9.6 kb; 2,049 of those bases code for the protein.

How a genome test reads TBR1

29

positions in TBR1 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 9.6 kb of TBR1, introns included, not only the 3.8 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.). TBR1 gene: T-box brain transcription factor 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbr1

Vancouver

Dante Labs. TBR1 gene: T-box brain transcription factor 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbr1

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