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FOXP4

Chr 6p21.1

forkhead box P4

Aliases:
FLJ40908
MANE:
ENST00000307972.10

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

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

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Paediatric disorders - additional genes

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Monogenic short stature

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • neurodevelopmental disorder

    0.59
  • neurodegenerative disease

    0.52
  • prostate carcinoma

    0.47
  • ventricular septal defect

    0.41
  • prostate cancer

    0.38
  • congenital diaphragmatic hernia

    0.37
  • Short stature

    0.34
  • Flattened epiphysis

    0.34
  • Disproportionate short stature

    0.34
  • Craniofacial asymmetry

    0.34

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

Protein function (UniProt)

Forkhead box protein P4

Transcriptional repressor that represses lung-specific expression

Curated MONDO disease pages that list FOXP4 among their top associated genes.

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.