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SPRY1

Chr 4q28.1

sprouty RTK signaling antagonist 1

Aliases:
hSPRY1
MANE:
ENST00000651917.1

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Rare syndromic craniosynostosis or isolated multisuture synostosis

    BIALLELIC, autosomal or pseudoautosomal
  • CAKUT

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Unexplained kidney failure in young people

  • Unexplained young onset end-stage renal disease - additional genes

    Unknown

Disease associations (Open Targets)

  • neurodegenerative disease

    0.37
  • Barrett esophagus

    0.36
  • chronic hepatitis

    0.33
  • esophageal adenocarcinoma

    0.31
  • ovarian dysfunction

    0.31
  • hypertensive disorder

    0.28
  • hereditary disease

    0.27
  • peptic ulcer disease

    0.26
  • cervical carcinoma

    0.25
  • androgenetic alopecia

    0.25

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

Protein function (UniProt)

Protein sprouty homolog 1

Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2 (By similarity). Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (By similarity)

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.