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ZBTB24

Chr 6q21

zinc finger and BTB domain containing 24

Aliases:
KIAA0441, BIF1, PATZ2
MANE:
ENST00000230122.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Clefting

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • ICF syndrome

    0.79
  • Intellectual disability

    0.37
  • hereditary disease

    0.19
  • Kabuki syndrome 1

    0.12
  • clonal hematopoiesis

    0.08
  • cardiac transplant

    0.07
  • retinitis pigmentosa

    0.07
  • Leber congenital amaurosis

    0.07
  • Familial exudative vitreoretinopathy

    0.07
  • Cone rod dystrophy

    0.06

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

Protein function (UniProt)

Zinc finger and BTB domain-containing protein 24

May be involved in BMP2-induced transcription

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.