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ZFYVE19

Chr 15q15.1

zinc finger FYVE-type containing 19

Aliases:
FLJ14840, ANCHR, MPFYVE
MANE:
ENST00000355341.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cholestasis

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • cholestasis, progressive familial intrahepatic, 9

    0.75
  • neurodegenerative disease

    0.28
  • metabolic syndrome

    0.07
  • lower respiratory tract disorder

    0.04
  • maturity-onset diabetes of the young type 10

    0.04
  • MODY

    0.04
  • permanent neonatal diabetes mellitus 1

    0.04
  • thyroid gland carcinoma

    0.03
  • hypertensive disorder

    0.02
  • essential hypertension

    0.02

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

Protein function (UniProt)

Abscission/NoCut checkpoint regulator

Key regulator of abscission step in cytokinesis: part of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage. Together with CHMP4C, required to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ZFYVE19/ANCHR and VPS4 and subsequent abscission

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.