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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:604638
PHARMGKB IDPA23
Map Location19q13.2

GO terms in ACTN4


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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
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Gene expression in normal tissue: ACTN4

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 1

Gene-drug pathway distribution

RTK signaling1

Pathways in ACTN4


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD409 Saracatinib 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ACTN4

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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