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FEZF2

Chr 3p14.2

FEZ family zinc finger 2

Aliases:
FLJ10142, FKSG36, TOF, FEZL, Zfp312
MANE:
ENST00000283268.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • neurodegenerative disease

    0.49
  • neurodevelopmental disorder

    0.31
  • placental abruption

    0.31
  • bone fracture

    0.28
  • Abnormality of the integument

    0.14
  • Abnormality of the skeletal system

    0.13
  • biliary tract disorder

    0.12
  • mathematical ability

    0.12
  • liver disorder

    0.12
  • hypomyelinating leukodystrophy 5

    0.12

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

Protein function (UniProt)

Fez family zinc finger protein 2

Transcription repressor. Required for the specification of corticospinal motor neurons and other subcerebral projection neurons. May play a role in layer and neuronal subtype-specific patterning of subcortical projections and axonal fasciculation. Controls the development of dendritic arborization and spines of large layer V pyramidal neurons. May be involved in innate immunity (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.