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ACTN4

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].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
actinin alpha 4	MIM:604638	Ensembl:ENSG00000130402	HGNC:HGNC:166	PA23	19q13.2

Gene Categories:

DRUGGABLE GENOME TRANSPORTER TRANSCRIPTION FACTOR BINDING

GO terms in ACTN4

Term Type	Evidence Type	GO Term ID	GO Des.
CC	IEA	GO:0001725	stress fiber
CC	TAS	GO:0005576	extracellular region
CC	HDA	GO:0005615	extracellular space
CC	IDA	GO:0005622	intracellular
CC	IDA	GO:0005634	nucleus
CC	HDA	GO:0005737	cytoplasm
CC	IDA	GO:0005737	cytoplasm
CC	IDA	GO:0005829	cytosol
CC	IEA	GO:0005903	brush border
CC	IEA	GO:0005911	cell-cell junction
CC	HDA	GO:0005925	focal adhesion
CC	IDA	GO:0015629	actin cytoskeleton
CC	IDA	GO:0016604	nuclear body
CC	IEA	GO:0030018	Z disc
CC	IEA	GO:0030863	cortical cytoskeleton
CC	TAS	GO:0031093	platelet alpha granule lumen
CC	TAS	GO:0031143	pseudopodium
CC	IDA	GO:0032991	protein-containing complex
CC	IEA	GO:0043005	neuron projection
CC	IDA	GO:0048471	perinuclear region of cytoplasm
CC	HDA	GO:0070062	extracellular exosome
CC	IDA	GO:1990904	ribonucleoprotein complex
BP	IEA	GO:0001666	response to hypoxia
BP	TAS	GO:0002576	platelet degranulation
BP	IEA	GO:0015031	protein transport
BP	IMP	GO:0030050	vesicle transport along actin filament
BP	IMP	GO:0030335	positive regulation of cell migration
BP	NAS	GO:0032417	positive regulation of sodium:proton antiporter activity
BP	IDA	GO:0035357	peroxisome proliferator activated receptor signaling pathway
BP	NAS	GO:0042981	regulation of apoptotic process
BP	IDA	GO:0048384	retinoic acid receptor signaling pathway
BP	IEA	GO:0048549	positive regulation of pinocytosis
BP	IEA	GO:0051017	actin filament bundle assembly
BP	IEA	GO:0051271	negative regulation of cellular component movement
BP	IDA	GO:0051272	positive regulation of cellular component movement
BP	IMP	GO:0051272	positive regulation of cellular component movement
BP	IEA	GO:0070830	bicellular tight junction assembly
BP	IMP	GO:1900025	negative regulation of substrate adhesion-dependent cell spreading
BP	IMP	GO:1901224	positive regulation of NIK/NF-kappaB signaling
BP	IEA	GO:1902396	protein localization to bicellular tight junction
BP	IMP	GO:1903506	regulation of nucleic acid-templated transcription
BP	IEA	GO:1903508	positive regulation of nucleic acid-templated transcription
MF	IDA	GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding
MF	IDA	GO:0001882	nucleoside binding
MF	HDA	GO:0003723	RNA binding
MF	TAS	GO:0003779	actin binding
MF	TAS	GO:0005178	integrin binding
MF	IEA	GO:0005509	calcium ion binding
MF	IPI	GO:0005515	protein binding
MF	IMP	GO:0030374	nuclear receptor transcription coactivator activity
MF	IDA	GO:0031490	chromatin DNA binding
MF	IPI	GO:0035257	nuclear hormone receptor binding
MF	IPI	GO:0042803	protein homodimerization activity
MF	TAS	GO:0042803	protein homodimerization activity
MF	IPI	GO:0042974	retinoic acid receptor binding
MF	IPI	GO:0044325	ion channel binding
MF	IEA	GO:0047485	protein N-terminus binding
MF	IDA	GO:0051015	actin filament binding
MF	IMP	GO:0051015	actin filament binding

Gene expression in normal tissue: ACTN4

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ACTN4

Database	Pathway ID	Pathway Des.
wikipathways	WP2118	Arrhythmogenic Right Ventricular Cardiomyopathy
wikipathways	WP2572	Primary Focal Segmental Glomerulosclerosis FSGS
wikipathways	WP306	Focal Adhesion
wikipathways	WP383	Striated Muscle Contraction
pid	fak_pathway	Signaling events mediated by focal adhesion kinase
pid	pdgfrbpathway	PDGFR-beta signaling pathway
kegg	hsa04510	Focal adhesion - Homo sapiens (human)
kegg	hsa04520	Adherens junction - Homo sapiens (human)
kegg	hsa04530	Tight junction - Homo sapiens (human)
kegg	hsa04670	Leukocyte transendothelial migration - Homo sapiens (human)
kegg	hsa04810	Regulation of actin cytoskeleton - Homo sapiens (human)
kegg	hsa05146	Amoebiasis - Homo sapiens (human)
kegg	hsa05203	Viral carcinogenesis - Homo sapiens (human)
kegg	hsa05322	Systemic lupus erythematosus - Homo sapiens (human)
netpath	Pathway_EGFR1	EGFR1
biocarta	ecmpathway	erk and pi-3 kinase are necessary for collagen binding in corneal epithelia
biocarta	integrinpathway	integrin signaling pathway
biocarta	ucalpainpathway	ucalpain and friends in cell spread
reactome	R-HSA-109582	Hemostasis
reactome	R-HSA-114608	Platelet degranulation
reactome	R-HSA-1500931	Cell-Cell communication
reactome	R-HSA-373753	Nephrin family interactions
reactome	R-HSA-76002	Platelet activation, signaling and aggregation
reactome	R-HSA-76005	Response to elevated platelet cytosolic Ca2+

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD409	Saracatinib	1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ACTN4

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DATATYPES

CLASSFICATION

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