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ZBTB47

Chr 3p22.1

zinc finger and BTB domain containing 47

Aliases:
KIAA1190, DKFZp434N0615
MANE:
ENST00000232974.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • neurodevelopmental disorder

    0.37
  • neurodegenerative disease

    0.24
  • Seizure

    0.12
  • Neurodevelopmental delay

    0.12
  • pancreatic adenocarcinoma

    0.03
  • Global developmental delay

    0.01
  • Alzheimer disease

    0.01
  • digestive system carcinoma

    0.00
  • glioma

    0.00
  • central nervous system cancer

    0.00

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 47

May be involved in transcriptional regulation

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.