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SPARC

Chr 5q33.1

secreted protein acidic and cysteine rich

Aliases:
ONT, BM-40
MANE:
ENST00000231061.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Osteogenesis imperfecta

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • osteogenesis imperfecta

    0.71
  • neurodegenerative disease

    0.44
  • hereditary disease

    0.41
  • osteogenesis imperfecta type 4

    0.38
  • Abnormality of the skeletal system

    0.35
  • preeclampsia

    0.24
  • cervical carcinoma

    0.12
  • neoplasm

    0.12
  • gastric cancer

    0.12
  • colorectal carcinoma

    0.12

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

Protein function (UniProt)

SPARC

Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity

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.