Aliases for ACTN4 Gene
External Ids for ACTN4 Gene
Previous HGNC Symbols for ACTN4 Gene
Previous GeneCards Identifiers for ACTN4 Gene
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]
GeneCards Summary for ACTN4 Gene
ACTN4 (Actinin Alpha 4) is a Protein Coding gene. Diseases associated with ACTN4 include Focal Segmental Glomerulosclerosis 1 and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is ACTN1.
UniProtKB/Swiss-Prot Summary for ACTN4 Gene
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778).