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DNAH11

Chr 7p15.3

dynein axonemal heavy chain 11

Aliases:
Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL
MANE:
ENST00000409508.8
OMIM: 603339 ↗NCBI: 8701 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Laterality disorders and isomerism

    BIALLELIC, autosomal or pseudoautosomal

  • Primary ciliary disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Respiratory ciliopathies including non-CF bronchiectasis

    BIALLELIC, autosomal or pseudoautosomal

  • Ductal plate malformation

    BIALLELIC, autosomal or pseudoautosomal

  • Familial pulmonary fibrosis

  • Non-CF bronchiectasis

  • Paediatric disorders - additional genes

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • primary ciliary dyskinesia

    0.77

  • Hypercholesterolemia

    0.48

  • metabolic disease

    0.45

  • Kartagener Syndrome

    0.42

  • hyperlipidemia

    0.39

  • bronchiectasis

    0.37

  • laterality defects, autosomal dominant

    0.37

  • placental retention

    0.34

  • squamous cell carcinoma

    0.34

  • prostate carcinoma

    0.34

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

Protein function (UniProt)

Dynein axonemal heavy chain 11

Force generating protein required for cilia beating in respiratory epithelia (By similarity). Produces force towards the minus ends of microtubules (By similarity). Key component of dynein, a family of motor proteins essential for movement along microtubules (By similarity). Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity). Required for structural and functional integrity of cilia (By similarity)

Diseases associated with DNAH11

Curated MONDO disease pages that list DNAH11 among their top associated genes.

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.