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 |
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
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 in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ACTN4
CLASSFICATION
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