Summary: 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].

actinin alpha 4MIM:604638Ensembl:ENSG00000130402HGNC:HGNC:166PA2319q13.2

GO terms in ACTN4

Term TypeEvidence TypeGO Term IDGO Des.
CCIEAGO:0001725stress fiber
CCTASGO:0005576extracellular region
CCHDAGO:0005615extracellular space
CCIEAGO:0005903brush border
CCIEAGO:0005911cell-cell junction
CCHDAGO:0005925focal adhesion
CCIDAGO:0015629actin cytoskeleton
CCIDAGO:0016604nuclear body
CCIEAGO:0030018Z disc
CCIEAGO:0030863cortical cytoskeleton
CCTASGO:0031093platelet alpha granule lumen
CCIDAGO:0032991protein-containing complex
CCIEAGO:0043005neuron projection
CCIDAGO:0048471perinuclear region of cytoplasm
CCHDAGO:0070062extracellular exosome
CCIDAGO:1990904ribonucleoprotein complex
BPIEAGO:0001666response to hypoxia
BPTASGO:0002576platelet degranulation
BPIEAGO:0015031protein transport
BPIMPGO:0030050vesicle transport along actin filament
BPIMPGO:0030335positive regulation of cell migration
BPNASGO:0032417positive regulation of sodium:proton antiporter activity
BPIDAGO:0035357peroxisome proliferator activated receptor signaling pathway
BPNASGO:0042981regulation of apoptotic process
BPIDAGO:0048384retinoic acid receptor signaling pathway
BPIEAGO:0048549positive regulation of pinocytosis
BPIEAGO:0051017actin filament bundle assembly
BPIEAGO:0051271negative regulation of cellular component movement
BPIDAGO:0051272positive regulation of cellular component movement
BPIMPGO:0051272positive regulation of cellular component movement
BPIEAGO:0070830bicellular tight junction assembly
BPIMPGO:1900025negative regulation of substrate adhesion-dependent cell spreading
BPIMPGO:1901224positive regulation of NIK/NF-kappaB signaling
BPIEAGO:1902396protein localization to bicellular tight junction
BPIMPGO:1903506regulation of nucleic acid-templated transcription
BPIEAGO:1903508positive regulation of nucleic acid-templated transcription
MFIDAGO:0000977RNA polymerase II regulatory region sequence-specific DNA binding
MFIDAGO:0001882nucleoside binding
MFHDAGO:0003723RNA binding
MFTASGO:0003779actin binding
MFTASGO:0005178integrin binding
MFIEAGO:0005509calcium ion binding
MFIPIGO:0005515protein binding
MFIMPGO:0030374nuclear receptor transcription coactivator activity
MFIDAGO:0031490chromatin DNA binding
MFIPIGO:0035257nuclear hormone receptor binding
MFIPIGO:0042803protein homodimerization activity
MFTASGO:0042803protein homodimerization activity
MFIPIGO:0042974retinoic acid receptor binding
MFIPIGO:0044325ion channel binding
MFIEAGO:0047485protein N-terminus binding
MFIDAGO:0051015actin filament binding
MFIMPGO:0051015actin filament binding

Gene expression in normal tissue: ACTN4

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ACTN4

DatabasePathway IDPathway Des.
wikipathwaysWP2118Arrhythmogenic Right Ventricular Cardiomyopathy
wikipathwaysWP2572Primary Focal Segmental Glomerulosclerosis FSGS
wikipathwaysWP306Focal Adhesion
wikipathwaysWP383Striated Muscle Contraction
pidfak_pathwaySignaling events mediated by focal adhesion kinase
pidpdgfrbpathwayPDGFR-beta signaling pathway
kegghsa04510Focal adhesion - Homo sapiens (human)
kegghsa04520Adherens junction - Homo sapiens (human)
kegghsa04530Tight junction - Homo sapiens (human)
kegghsa04670Leukocyte transendothelial migration - Homo sapiens (human)
kegghsa04810Regulation of actin cytoskeleton - Homo sapiens (human)
kegghsa05146Amoebiasis - Homo sapiens (human)
kegghsa05203Viral carcinogenesis - Homo sapiens (human)
kegghsa05322Systemic lupus erythematosus - Homo sapiens (human)
biocartaecmpathwayerk and pi-3 kinase are necessary for collagen binding in corneal epithelia
biocartaintegrinpathwayintegrin signaling pathway
biocartaucalpainpathwayucalpain and friends in cell spread
reactomeR-HSA-114608Platelet degranulation
reactomeR-HSA-1500931Cell-Cell communication
reactomeR-HSA-373753Nephrin family interactions
reactomeR-HSA-76002Platelet activation, signaling and aggregation
reactomeR-HSA-76005Response to elevated platelet cytosolic Ca2+

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ACTN4