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POLR2C

Chr 16q21

RNA polymerase II subunit C

Aliases:
RPB3
MANE:
ENST00000219252.10

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Primary ovarian insufficiency

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Congenital hypothyroidism

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Cytopenia - NOT Fanconi anaemia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Cytopenias and congenital anaemias

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • HIV infectious disease

    0.60
  • influenza

    0.37
  • acrocephalosyndactyly

    0.37
  • dengue disease

    0.37
  • genetic non-acquired premature ovarian failure

    0.32
  • coronary atherosclerosis

    0.32
  • neurodegenerative disease

    0.26
  • primary ovarian failure

    0.18
  • Premature ovarian insufficiency

    0.18
  • deafness

    0.11

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

Protein function (UniProt)

DNA-directed RNA polymerase II subunit RPB3

Core component of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase which synthesizes mRNA precursors and many functional non-coding RNAs using the four ribonucleoside triphosphates as substrates

Curated MONDO disease pages that list POLR2C among their top associated genes.

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.