Capping actin protein of muscle Z-line subunit alpha 2
Gene symbol
CAPZA2
Synonyms (NCBI Gene)
CAPPA2CAPZ
Chromosome
7
Chromosome location
7q31.2
Summary
The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
F-actin-capping protein subunit alpha-2 (CapZ alpha-2)
Protein function
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 pr
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["Endocytosis","Motor proteins","Cytoskeleton in muscle cells","Factors involved in megakaryocyte development and platelet production","COPI-mediated anterograde transport","MHC class II antigen presentation","HSP90 chaperone cycle for steroid hormone receptors (SHR)","COPI-independent Golgi-to-ER retrograde traffic","Advanced glycosylation endproduct receptor signaling"]
["Endocytosis","Motor proteins","Cytoskeleton in muscle cells","Factors involved in megakaryocyte development and platelet production","COPI-mediated anterograde transport","MHC class II antigen presentation","HSP90 chaperone cycle for steroid hormone receptors (SHR)","COPI-independent Golgi-to-ER retrograde traffic"]
["Motor proteins","COPI-mediated anterograde transport","MHC class II antigen presentation","HSP90 chaperone cycle for steroid hormone receptors (SHR)","COPI-independent Golgi-to-ER retrograde traffic"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to CAPZA2 (see Related Genes above), that are NOT already directly curated for CAPZA2 itself -- a lead worth checking, not a confirmed association.