TAF2 Chromosome 8
TATA-box binding protein associated factor 2
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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 is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"M1 metallopeptidases|General transcription factor IID complex subunits"
Locus Type
gene with protein product
Location
8q24.12
Ensembl
ENSG00000064313
Associated Conditions (1)
Microcephaly-thin corpus callosum-intellectual disability syndrome
Key Variants
RS112002462
Conflicting classifications of pathogenicity
Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome
Health Risk
RS546468025
Conflicting classifications of pathogenicity
Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome
Health Risk
RS750451843
Conflicting classifications of pathogenicity
Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome
Health Risk
RS2131056296
Likely pathogenic
Health Risk
RS398124645
Pathogenic
Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome
Health Risk
RS2131063622
Pathogenic/Likely pathogenic
Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112002462 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome |
| RS546468025 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome |
| RS750451843 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome |
| RS2131056296 | Health Risk | Likely pathogenic | — |
| RS398124645 | Health Risk | Pathogenic | Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome |
| RS2131063622 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome |