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KLF7

Chr 2q33.3

KLF transcription factor 7

Aliases:
UKLF
MANE:
ENST00000309446.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

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

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • neurodegenerative disease

    0.53
  • hereditary disease

    0.47
  • prostate carcinoma

    0.47
  • neurodevelopmental disorder

    0.45
  • hearing loss disorder

    0.45
  • Intellectual disability

    0.45
  • major depressive disorder

    0.43
  • presbycusis

    0.39
  • lysosomal storage disease

    0.37
  • insomnia

    0.36

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

Protein function (UniProt)

Krueppel-like factor 7

Transcriptional factor (PubMed:16339272, PubMed:9774444). Plays a critical role in neuronal morphogenesis and survival of sensory neurons (By similarity). Represses the corneal epithelium differentiation (PubMed:28916725). Also acts as a metabolic regulator, by modulating insulin sensitivity in pancreatic beta cells and skeletal muscle cells (PubMed:16339272). Inhibits transcriptional inducers of adipogenesis and has a repressive role in the expression of several adipokines, including leptin (PubMed:16339272)

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.