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FGF4

Chr 11q13.3

fibroblast growth factor 4

Aliases:
K-FGF, HBGF-4, HST, HST-1, KFGF
MANE:
ENST00000168712.3

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • cancer

    0.60
  • bone development disease

    0.60
  • neurodegenerative disease

    0.53
  • thoracic dysostosis, isolated

    0.42
  • craniosynostosis

    0.37
  • ovarian carcinoma

    0.37
  • female reproductive endometrioid cancer

    0.37
  • acrocephalosyndactyly

    0.37
  • Jeune syndrome

    0.37
  • Abnormality of the liver

    0.26

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

Protein function (UniProt)

Fibroblast growth factor 4

Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal limb and cardiac valve development during embryogenesis. May play a role in embryonic molar tooth bud development via inducing the expression of MSX1, MSX2 and MSX1-mediated expression of SDC1 in dental mesenchyme 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.