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GenoLensGenoLens

SGO2

Chr 2q33.1

shugoshin 2

Aliases:
TRIPIN, FLJ25211
MANE:
ENST00000357799.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Primary ovarian insufficiency

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • nodular goiter

    0.43
  • primary ovarian failure

    0.34
  • multinodular goiter

    0.29
  • nontoxic goiter

    0.29
  • myasthenia gravis

    0.26
  • Perrault syndrome

    0.19
  • hepatocellular carcinoma

    0.10
  • glioma

    0.08
  • central nervous system cancer

    0.08
  • breast cancer

    0.08

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

Protein function (UniProt)

Shugoshin 2

Cooperates with PPP2CA to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I. Has a crucial role in protecting REC8 at centromeres from cleavage by separase. During meiosis, protects centromeric cohesion complexes until metaphase II/anaphase II transition, preventing premature release of meiosis-specific REC8 cohesin complexes from anaphase I centromeres. Is thus essential for an accurate gametogenesis. May act by targeting PPP2CA to centromeres, thus leading to cohesin dephosphorylation (By similarity). Essential for recruiting KIF2C to the inner centromere and for correcting defective kinetochore attachments. Involved in centromeric enrichment of AUKRB in prometaphase

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.