Skip to content
GenoLensGenoLens

ZNF335

Chr 20q13.12

zinc finger protein 335

Aliases:
bA465L10.2, NIF-1
MANE:
ENST00000322927.3

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal
  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • microcephalic primordial dwarfism due to ZNF335 deficiency

    0.78
  • neurodegenerative disease

    0.51
  • hereditary disease

    0.51
  • Neurological conditions associated with aminoacylase 1 deficiency

    0.26
  • lymphoid leukemia

    0.21
  • coronary artery disorder

    0.15
  • metabolic dysfunction-associated steatotic liver disease

    0.13
  • abdominal aortic aneurysm

    0.13
  • autosomal recessive primary microcephaly

    0.12
  • autism

    0.11

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

Protein function (UniProt)

Zinc finger protein 335

Component or associated component of some histone methyltransferase complexes may regulate transcription through recruitment of those complexes on gene promoters (PubMed:19131338, PubMed:23178126). Enhances ligand-dependent transcriptional activation by nuclear hormone receptors (PubMed:12215545, PubMed:18180299, PubMed:19131338). Plays an important role in neural progenitor cell proliferation and self-renewal through the regulation of specific genes involved brain development, including REST (PubMed:23178126). Also controls the expression of genes involved in somatic development and regulates, for instance, lymphoblast proliferation (PubMed:23178126)

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.