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ZRSR2

Chr Xp22.2

zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2

Aliases:
U2AF1-RS2, URP, ZC3H22
MANE:
ENST00000307771.8

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Cytopenias and congenital anaemias

    Unknown

Disease associations (Open Targets)

  • neurodegenerative disease

    0.55
  • orofaciodigital syndrome 21

    0.51
  • myelodysplastic syndrome

    0.39
  • CD4+/CD56+ hematodermic neoplasm

    0.38
  • chronic myelomonocytic leukemia

    0.37
  • myelofibrosis

    0.37
  • colorectal adenocarcinoma

    0.37
  • acute myeloid leukemia

    0.32
  • lysosomal storage disease

    0.30
  • myeloproliferative disorder

    0.28

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

Protein function (UniProt)

U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2

Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs in an ATP-dependent manner and is required for assembly of the pre-spliceosome, a precursor to other spliceosomal complexes. For U2-type introns, it is selectively and specifically required for the second step of splicing

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.