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CSTF2

Chr Xq22.1

cleavage stimulation factor subunit 2

Aliases:
CstF-64
MANE:
ENST00000372972.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

  • dengue disease

    0.37
  • intellectual developmental disorder, X-linked 113

    0.36
  • Intellectual disability

    0.19
  • hepatocellular carcinoma

    0.11
  • cancer

    0.09
  • neoplasm

    0.09
  • gastric cancer

    0.07
  • lung cancer

    0.03
  • lung carcinoma

    0.03
  • laryngotracheoesophageal cleft

    0.03

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

Protein function (UniProt)

Cleavage stimulation factor subunit 2

One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. This subunit is directly involved in the binding to pre-mRNAs

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.