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ZNF808

Chr 19q13.41

zinc finger protein 808

MANE:
ENST00000359798.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Neonatal diabetes

    BIALLELIC, autosomal or pseudoautosomal
  • Monogenic diabetes

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • pancreatic agenesis 3

    0.61
  • neonatal diabetes mellitus

    0.37
  • neurodegenerative disease

    0.29
  • neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

    0.27
  • diabetes mellitus

    0.20
  • pancreatic agenesis

    0.19
  • placental abruption

    0.16
  • type 2 diabetes mellitus

    0.01
  • lung cancer

    0.01
  • lung carcinoma

    0.01

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

Protein function (UniProt)

Zinc finger protein 808

Transcriptional repressor that targets mainly transposable elements (PubMed:37973953). Primarily targets the long terminal repeat of endogenous retroviruses classified as MER11 elements which comprise subfamilies A, B and C (PubMed:37973953). May silence transposable elements through the establishment of heterochromatin-associated trimethylation of 'Lys-9' of histone H3 (H3K9me3) (PubMed:37973953). Can also bind to certain gene promoters and other genomic regions (PubMed:37973953). Represses transcription of specific MER11 elements during differentiation toward pancreatic lineages in early pancreas development (PubMed:37973953). By repressing transcription, prevents a liver gene expression program from being aberrantly activated during pancreas differentiation (PubMed:37973953)

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.