Skip to content
GenoLensGenoLens

CAPZA2

Chr 7q31.2

capping actin protein of muscle Z-line subunit alpha 2

Aliases:
CAPZ, CAPPA2
MANE:
ENST00000361183.8
OMIM: 601571 ↗NCBI: 830 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Intellectual disability

    0.47

  • alcohol drinking

    0.25

  • stroke disorder

    0.23

  • Hypocalcemia

    0.22

  • Alzheimer disease

    0.19

  • neurodevelopmental disorder

    0.13

  • cardiovascular disorder

    0.09

  • Disorder of lipid metabolism

    0.08

  • insomnia

    0.07

  • placenta praevia

    0.07

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

Protein function (UniProt)

F-actin-capping protein subunit alpha-2

F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments

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.