Alpha-actinin-4

ACTN4
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1WLX, 1YDI, 2R0O
Identifiers
Aliases	ACTN4, ACTININ-4, FSGS, FSGS1, Actinin alpha 4
External IDs	OMIM: 604638 MGI: 1890773 HomoloGene: 55857 GeneCards: ACTN4
Gene location (Human)
Chr.	Chromosome 19 (human)
End	38,731,589 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	28,661,765 bp
RNA expression pattern
	Top expressed in
	popliteal artery; ; smooth muscle tissue; ; right coronary artery; ; stromal cell of endometrium; ; ascending aorta; ; placenta; ; islet of Langerhans; ; myometrium; ; left coronary artery; ; duodenum;
	Top expressed in
	corneal stroma; ; pyloric antrum; ; lip; ; internal carotid artery; ; conjunctival fornix; ; external carotid artery; ; ileum; ; yolk sac; ; hair follicle; ; Paneth cell;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	metal ion binding; calcium ion binding; actin binding; protein-containing complex binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; protein homodimerization activity; protein N-terminus binding; nucleoside binding; transmembrane transporter binding; nuclear receptor coactivator activity; integrin binding; retinoic acid receptor binding; chromatin DNA binding; protein binding; actin filament binding; RNA binding; transcription coactivator activity;
Cellular component	extracellular exosome; extracellular region; brush border; pseudopodium; cytoplasm; actin cytoskeleton; cell junction; nucleus; stress fiber; cell-cell junction; neuron projection; focal adhesion; platelet alpha granule lumen; intracellular anatomical structure; Z disc; perinuclear region of cytoplasm; cortical cytoskeleton; extracellular space; cytosol; nuclear body; cytoskeleton; protein-containing complex; ribonucleoprotein complex;
Biological process	response to hypoxia; vesicle transport along actin filament; actin filament bundle assembly; positive regulation of NIK/NF-kappaB signaling; regulation of apoptotic process; positive regulation of cell migration; bicellular tight junction assembly; positive regulation of sodium:proton antiporter activity; protein localization to bicellular tight junction; platelet degranulation; positive regulation of pinocytosis; retinoic acid receptor signaling pathway; regulation of nucleic acid-templated transcription; protein transport; peroxisome proliferator activated receptor signaling pathway; negative regulation of substrate adhesion-dependent cell spreading; transport; tumor necrosis factor-mediated signaling pathway; positive regulation of nucleic acid-templated transcription;
	Sources:Amigo / QuickGO
Orthologs
	81
	60595
	ENSG00000130402; ENSG00000282844
	ENSMUSG00000054808
	O43707
	P57780
	NM_004924; NM_001322033
	NM_021895; NM_001360548; NM_001360549; NM_001360550
	NP_001308962; NP_004915
	NP_068695; NP_001347477; NP_001347478; NP_001347479
	Wikidata
View/Edit Human	View/Edit Mouse

Alpha-actinin-4 is a protein that in humans is encoded by the 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.

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