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WSB2

Chr 12q24.23

WD repeat and SOCS box containing 2

Aliases:
SBA2, MGC10210
MANE:
ENST00000315436.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Ataxia and cerebellar anomalies - narrow panel

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.50
  • neurodevelopmental disorder

    0.45
  • prostate carcinoma

    0.32
  • muscular disease

    0.25
  • hepatocellular carcinoma

    0.08
  • cancer

    0.08
  • lung carcinoma

    0.08
  • lung cancer

    0.08
  • breast carcinoma

    0.06
  • breast cancer

    0.06

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

Protein function (UniProt)

WD repeat and SOCS box-containing protein 2

May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins

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.