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ZNF711

Chr Xq21.1

ZFX family zinc finger ZNF711

Aliases:
CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711
MANE:
ENST00000674551.1

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Intellectual disability

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Fetal anomalies

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

  • X-linked non-syndromic intellectual disability

    0.76
  • hereditary disease

    0.49
  • X-linked complex neurodevelopmental disorder

    0.37
  • non-syndromic X-linked intellectual disability

    0.37
  • Intellectual disability

    0.27
  • inherited obesity

    0.12
  • neoplasm

    0.08
  • ovarian carcinoma

    0.07
  • oculocutaneous albinism type 6

    0.07
  • acroleukopathy, symmetric

    0.07

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

Protein function (UniProt)

Zinc finger protein 711

Transcription regulator required for brain development (PubMed:20346720). Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activated expression of genes involved in neuron development, such as KDM5C (PubMed:20346720, PubMed:31691806). May compete with transcription factor ARX for activation of expression of KDM5C (PubMed:31691806)

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.