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 |
---|---|---|---|---|---|
Nameactinin alpha 4 OMIM IDMIM:604638 Ensembl IDEnsembl:ENSG00000130402 HGNC IDHGNC:HGNC:166 PHARMGKB IDPA23 Map Location19q13.2 |
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 |
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 |
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
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |