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ZNF750

Chr 17q25.3

zinc finger protein 750

Aliases:
FLJ13841, Zfp750
MANE:
ENST00000269394.4

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Generalised pustular psoriasis

    Unknown

Disease associations (Open Targets)

  • seborrhea-like dermatitis with psoriasiform elements

    0.55
  • esophageal cancer

    0.47
  • hair color

    0.34
  • squamous cell lung carcinoma

    0.28
  • seborrheic keratosis

    0.22
  • skin disorder

    0.15
  • early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

    0.12
  • esophageal squamous cell carcinoma

    0.11
  • neoplasm

    0.11
  • breast carcinoma

    0.08

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

Protein function (UniProt)

Zinc finger protein 750

Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression

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.