Skip to content
GenoLensGenoLens

DNAH6

Chr 2p11.2

dynein axonemal heavy chain 6

Aliases:
Dnahc6, HL-2, FLJ37357
MANE:
ENST00000389394.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Laterality disorders and isomerism

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

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • spermatogenic failure

    0.40
  • alcohol drinking

    0.39
  • preeclampsia

    0.35
  • spermatocele

    0.29
  • hypospadias

    0.29
  • Abnormality of the integument

    0.28
  • Alzheimer disease

    0.28
  • Parkinson disease

    0.28
  • multiple sclerosis

    0.28
  • neurodegenerative disease

    0.28

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

Protein function (UniProt)

Dynein axonemal heavy chain 6

Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity)

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.