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ANXA11

Chr 10q22.3

annexin A11

MANE:
ENST00000422982.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult onset neurodegenerative disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Adult onset leukodystrophy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Amyotrophic lateral sclerosis/motor neuron disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • amyotrophic lateral sclerosis

    0.78
  • inclusion body myopathy and brain white matter abnormalities

    0.55
  • sarcoidosis

    0.46
  • oculopharyngeal muscular dystrophy 1

    0.35
  • ankylosing spondylitis

    0.33
  • immune system disorder

    0.30
  • multiple sclerosis

    0.27
  • connective tissue neoplasm

    0.27
  • hereditary disease

    0.19
  • spondylolisthesis

    0.14

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

Protein function (UniProt)

Annexin A11

Binds specifically to calcyclin in a calcium-dependent manner (By similarity). Required for midbody formation and completion of the terminal phase of cytokinesis

Curated MONDO disease pages that list ANXA11 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.