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CORO1A

Chr 16p11.2

coronin 1A

Aliases:
HCORO1, p57, coronin-1
MANE:
ENST00000219150.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Epidermodysplasia verruciformis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • severe combined immunodeficiency due to CORO1A deficiency

    0.76
  • severe combined immunodeficiency

    0.53
  • neurodegenerative disease

    0.49
  • combined immunodeficiency

    0.46
  • Omenn syndrome

    0.46
  • tuberculosis

    0.38
  • sinoatrial node disorder

    0.26
  • hereditary disease

    0.19
  • autism spectrum disorder

    0.14
  • sign or symptom

    0.10

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

Protein function (UniProt)

Coronin-1A

May be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. In mycobacteria-infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes

Curated MONDO disease pages that list CORO1A 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.