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BRF2

Chr 8p11.23

BRF2 general transcription factor IIIB subunit

Aliases:
FLJ11052, BRFU, TFIIIB50
MANE:
ENST00000220659.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • COVID-19 research

    Unknown
  • Paediatric disorders - additional genes

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.49
  • thyroiditis

    0.29
  • multiple congenital anomalies/dysmorphic syndrome

    0.23
  • Intellectual disability

    0.19
  • prostate cancer

    0.11
  • Familial prostate cancer

    0.11
  • non-small cell lung carcinoma

    0.10
  • cancer

    0.10
  • breast carcinoma

    0.10
  • breast cancer

    0.10

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

Protein function (UniProt)

Transcription factor IIIB 50 kDa subunit

General activator of RNA polymerase III transcription. Factor exclusively required for RNA polymerase III transcription of genes with promoter elements upstream of the initiation sites (PubMed:11040218, PubMed:11121026, PubMed:11564744, PubMed:26638071). Contributes to the regulation of gene expression; functions as activator in the absence of oxidative stress (PubMed:26638071). Down-regulates expression of target genes in response to oxidative stress (PubMed:26638071). Overexpression protects cells against apoptosis in response to oxidative stress (PubMed:26638071)

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.