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HYDIN

Chr 16q22.2

HYDIN axonemal central pair apparatus protein

Aliases:
DKFZp434D0513, KIAA1864, PPP1R31, CILD5
MANE:
ENST00000393567.7

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Primary ciliary disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Respiratory ciliopathies including non-CF bronchiectasis

    BIALLELIC, autosomal or pseudoautosomal
  • COVID-19 research

  • Ductal plate malformation

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Laterality disorders and isomerism

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Disease associations (Open Targets)

  • primary ciliary dyskinesia 5

    0.77
  • primary ciliary dyskinesia

    0.69
  • Abnormal sperm morphology

    0.34
  • Reduced sperm motility

    0.34
  • hypertensive disorder

    0.31
  • ovarian neoplasm

    0.31
  • scoliosis

    0.29
  • Hepatitis

    0.28
  • color vision disorder

    0.27
  • glomerulonephritis

    0.26

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

Protein function (UniProt)

Axonemal central pair apparatus protein HYDIN

Required for ciliary motility (By similarity). Required for localization of SPEF2 to the ciliary axoneme in ciliated respiratory epithelial cells (PubMed:31545650)

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.