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FIBP

Chr 11q13.1

FGF1 intracellular binding protein

Aliases:
FGFIBP
MANE:
ENST00000357519.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • tall stature-intellectual disability-renal anomalies syndrome

    0.68
  • Large hands

    0.26
  • Macrocephaly

    0.26
  • Overgrowth

    0.26
  • coloboma

    0.26
  • learning disability

    0.26
  • Abnormal facial shape

    0.26
  • hereditary disease

    0.19
  • metabolic syndrome

    0.16
  • psoriasis

    0.12

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

Protein function (UniProt)

Acidic fibroblast growth factor intracellular-binding protein

May be involved in mitogenic function of FGF1. May mediate with IER2 FGF-signaling in the establishment of laterality in the embryo (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.