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TAF6

Chr 7q22.1

TATA-box binding protein associated factor 6

Aliases:
TAFII70, TAFII80, MGC:8964, TAFII85
MANE:
ENST00000453269.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Alazami-Yuan syndrome

    0.68
  • HIV infectious disease

    0.58
  • hereditary disease

    0.47
  • neurodegenerative disease

    0.42
  • Intellectual disability

    0.41
  • Cornelia de Lange syndrome

    0.33
  • syndromic intellectual disability

    0.33
  • Global developmental delay

    0.26
  • Abnormal facial shape

    0.26
  • hereditary spastic paraplegia

    0.15

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription initiation factor TFIID subunit 6

The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:33795473). The TFIID complex structure can be divided into 3 modules TFIID-A, TFIID-B, and TFIID-C (PubMed:33795473). TAF6 homodimer connects TFIID modules, forming a rigid core (PubMed:33795473)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.