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ZNF148

Chr 3q21.2

zinc finger protein 148

Aliases:
BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148
MANE:
ENST00000360647.9

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, imprinted status unknown

Disease associations (Open Targets)

  • global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

    0.69
  • neurodegenerative disease

    0.52
  • hereditary disease

    0.39
  • atrial fibrillation

    0.38
  • neurodevelopmental disorder

    0.37
  • Intellectual disability

    0.34
  • poisoning

    0.23
  • bone fracture

    0.20
  • autism spectrum disorder

    0.12
  • neoplasm

    0.10

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

Protein function (UniProt)

Zinc finger protein 148

Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these 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.