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SPRY4

Chr 5q31.3

sprouty RTK signaling antagonist 4

MANE:
ENST00000434127.3

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Hypogonadotropic hypogonadism

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Hypogonadotropic hypogonadism (GMS)

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    Unknown
  • Rare syndromic craniosynostosis or isolated multisuture synostosis

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Kallmann syndrome

    0.75
  • neurodegenerative disease

    0.53
  • hypogonadotropic hypogonadism

    0.44
  • Abnormality of the skeletal system

    0.42
  • testicular cancer

    0.40
  • insomnia

    0.40
  • type 2 diabetes mellitus

    0.38
  • osteoarthritis, hand

    0.34
  • osteoarthritis, knee

    0.31
  • cancer

    0.30

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

Protein function (UniProt)

Protein sprouty homolog 4

Suppresses the insulin receptor and EGFR-transduced MAPK signaling pathway, but does not inhibit MAPK activation by a constitutively active mutant Ras (PubMed:12027893). Probably impairs the formation of GTP-Ras (PubMed:12027893). Inhibits Ras-independent, but not Ras-dependent, activation of RAF1 (PubMed:12717443). Represses integrin-mediated cell spreading via inhibition of TESK1-mediated phosphorylation of cofilin (PubMed:15584898)

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.