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SENP7

Chr 3q12.3

SUMO specific peptidase 7

MANE:
ENST00000394095.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal
  • Paediatric disorders - additional genes

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • skin disorder

    0.31
  • actinic keratosis

    0.28
  • arthrogryposis multiplex congenita

    0.25
  • clonal hematopoiesis

    0.25
  • placental abruption

    0.24
  • Recurrent infections

    0.23
  • ovarian neoplasm

    0.22
  • tooth disorder

    0.21
  • skin cancer

    0.20
  • skin neoplasm

    0.19

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

Protein function (UniProt)

Sentrin-specific protease 7

Protease that acts as a positive regulator of the cGAS-STING pathway by catalyzing desumoylation of CGAS. Desumoylation of CGAS promotes DNA-binding activity of CGAS, subsequent oligomerization and activation (By similarity). Deconjugates SUMO2 and SUMO3 from targeted proteins, but not SUMO1 (PubMed:18799455). Catalyzes the deconjugation of poly-SUMO2 and poly-SUMO3 chains (PubMed:18799455). Has very low efficiency in processing full-length SUMO proteins to their mature forms (PubMed:18799455)

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.