Skip to content
Use your HSA or FSA funds

Gene

TBP

TATA-box binding protein

Summary

Cytogenetic location
6q27
Coordinates
Chromosome 6: 170,554,369–170,572,859 (GRCh38)
Exons
8 exons across 18.5 kb
Protein
339 amino acids
Inheritance
Autosomal dominant
Also known as
TFIID, TBP1
Previous symbols
GTF2D1, SCA17
MANE Select transcript
ENST00000392092.7NM_003194.5
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

  • Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)

    • Autosomal Dominant Cerebellar AtaxiaAutosomal dominant

      A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.

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

      Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.

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 TBP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where TBP sits. TBP and 4 genes near it on chromosome 6, from 170,063,614 to 171,063,613.Chromosome 66q27p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27170.2 Mb170.4 Mb170.6 Mb170.8 Mb171 MbDLL1: 170,282,202–170,306,565, reverse strandDLL1FAM120B: 170,290,703–170,407,090, forward strandFAM120BPSMB1: 170,428,569–170,553,327, reverse strandPSMB1TBP: 170,554,369–170,572,859, forward strandTBPPDCD2: 170,572,301–170,584,692, reverse strandPDCD2Diagram of TBP: 8 exons on the forward strand of chromosome 6Exon 3: 2 known disease-causing sitesExon 1: 170,554,369–170,554,463, 95 basesExon 2: 170,556,882–170,557,083, 202 basesExon 3: 170,561,791–170,562,233, 443 basesExon 4: 170,564,545–170,564,632, 88 basesExon 5: 170,566,918–170,567,009, 92 basesExon 6: 170,569,612–170,569,779, 168 basesExon 7: 170,571,410–170,571,504, 95 basesExon 8: 170,572,186–170,572,859, 674 bases123456785′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 1.9 kb of the gene's 18.5 kb; 1,020 of those bases code for the protein.

How a genome test reads TBP

2

positions in TBP 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 18.5 kb of TBP, introns included, not only the 1.9 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.). TBP gene: TATA-box binding protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/tbp

Vancouver

Dante Labs. TBP gene: TATA-box binding protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tbp

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test