TAF4 Chromosome 20
TATA-box binding protein associated factor 4
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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 one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
General transcription factor IID complex subunits
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000130699
Associated Conditions (4)
Intellectual developmental disorder
autosomal dominant 73
Inborn genetic diseases
Neurodevelopmental disorder
Key Variants
RS1180230428
Conflicting classifications of pathogenicity
Intellectual developmental disorder, autosomal dominant 73, Inborn genetic diseases
Health Risk
RS2145530654
Likely pathogenic
Intellectual developmental disorder, autosomal dominant 73, Intellectual developmental disorder
Health Risk
RS2516041786
Likely pathogenic
Intellectual developmental disorder, autosomal dominant 73, Intellectual developmental disorder
Health Risk
RS2123150933
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2515980140
Pathogenic
Intellectual developmental disorder, autosomal dominant 73, Intellectual developmental disorder
Health Risk
RS2515981533
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2515981638
Pathogenic
Intellectual developmental disorder, autosomal dominant 73, Intellectual developmental disorder
Health Risk
RS2515985503
Pathogenic
Intellectual developmental disorder, autosomal dominant 73, Intellectual developmental disorder
Health Risk
RS2515989112
Pathogenic
Intellectual developmental disorder, autosomal dominant 73, Intellectual developmental disorder
Health Risk
RS753587914
Pathogenic
Intellectual developmental disorder, autosomal dominant 73, Neurodevelopmental disorder
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1180230428 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, autosomal dominant 73, Inborn genetic diseases |
| RS2145530654 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 73, Intellectual developmental disorder |
| RS2516041786 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 73, Intellectual developmental disorder |
| RS2123150933 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2515980140 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal dominant 73, Intellectual developmental disorder |
| RS2515981533 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2515981638 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal dominant 73, Intellectual developmental disorder |
| RS2515985503 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal dominant 73, Intellectual developmental disorder |
| RS2515989112 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal dominant 73, Intellectual developmental disorder |
| RS753587914 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal dominant 73, Neurodevelopmental disorder |