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ZSCAN10

Chr 16p13.3

zinc finger and SCAN domain containing 10

MANE:
ENST00000576985.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • otofacial neurodevelopmental syndrome

    0.61
  • Global developmental delay

    0.43
  • Sensorineural hearing impairment

    0.43
  • retinitis pigmentosa

    0.11
  • Progressive cone dystrophy

    0.10
  • Cone rod dystrophy

    0.09
  • Oguchi disease

    0.08
  • Familial exudative vitreoretinopathy

    0.08
  • Leber congenital amaurosis

    0.08
  • Familial drusen

    0.07

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

Protein function (UniProt)

Zinc finger and SCAN domain-containing protein 10

Embryonic stem (ES) cell-specific transcription factor required to maintain ES cell pluripotency. Can both activate and /or repress expression of target genes, depending on the context. Specifically binds the 5'-[GA]CGCNNGCG[CT]-3' DNA consensus sequence. Regulates expression of POU5F1/OCT4, ZSCAN4 and ALYREF/THOC4

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.