TBP Chromosome 6

TATA-box binding protein
3 variants 3 Health Risk

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What This Gene Does
Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 25-42, and expansion of the number of repeats to 45-66 increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
"General transcription factors|General transcription factor IID complex subunits|General transcription factor IIIB complex subunits"
Locus Type
gene with protein product
Location
6q27
Ensembl
ENSG00000112592
Associated Conditions (1)
Spinocerebellar ataxia type 17
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS112083427 Health Risk Conflicting classifications of pathogenicity
RS1290125655 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 17, Spinocerebellar ataxia type 17
RS752404282 Health Risk Pathogenic Spinocerebellar ataxia type 17, Spinocerebellar ataxia type 17
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