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FGF17

Chr 8p21.3

fibroblast growth factor 17

Aliases:
FGF-13
MANE:
ENST00000359441.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Hypogonadotropic hypogonadism (GMS)

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    Unknown
  • Hypogonadotropic hypogonadism

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Kallmann syndrome

    0.69
  • cancer

    0.60
  • bone development disease

    0.60
  • hypogonadotropic hypogonadism

    0.42
  • ovarian carcinoma

    0.37
  • acrocephalosyndactyly

    0.37
  • female reproductive endometrioid cancer

    0.37
  • craniosynostosis

    0.37
  • spermatogenic failure

    0.19
  • male infertility

    0.19

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

Protein function (UniProt)

Fibroblast growth factor 17

Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development

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.