ACTN3 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of ACTN3 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of ACTN3 at tissue level.

III. Associated gene sets

GO_0014732Biological processskeletal muscle atrophy
GO_0060349Biological processbone morphogenesis
GO_1900159Biological processpositive regulation of bone mineralization involved in bone maturation
GO_0070885Biological processnegative regulation of calcineurin-NFAT signaling cascade
GO_0055001Biological processmuscle cell development
GO_1904025Biological processpositive regulation of glucose catabolic process to lactate via pyruvate
GO_0014894Biological processresponse to denervation involved in regulation of muscle adaptation
GO_0031448Biological processpositive regulation of fast-twitch skeletal muscle fiber contraction
GO_0045820Biological processnegative regulation of glycolytic process
GO_0090324Biological processnegative regulation of oxidative phosphorylation
GO_0014883Biological processtransition between fast and slow fiber
GO_0030036Biological processactin cytoskeleton organization
GO_1901078Biological processnegative regulation of relaxation of muscle
GO_0042981Biological processregulation of apoptotic process
GO_0048633Biological processpositive regulation of skeletal muscle tissue growth
GO_0048041Biological processfocal adhesion assembly
GO_1903715Biological processregulation of aerobic respiration
GO_0048743Biological processpositive regulation of skeletal muscle fiber development
GO_0014728Biological processregulation of the force of skeletal muscle contraction
GO_0120163Biological processnegative regulation of cold-induced thermogenesis
GO_0005903Cellular componentbrush border
GO_0005886Cellular componentplasma membrane
GO_0030018Cellular componentZ disc
GO_0070062Cellular componentextracellular exosome
GO_0030864Cellular componentcortical actin cytoskeleton
GO_0005884Cellular componentactin filament
GO_0005925Cellular componentfocal adhesion
GO_0005829Cellular componentcytosol
GO_0042995Cellular componentcell projection
GO_0031143Cellular componentpseudopodium
GO_0030054Cellular componentcell junction
GO_0008307Molecular functionstructural constituent of muscle
GO_0051015Molecular functionactin filament binding
GO_0042802Molecular functionidentical protein binding
GO_0005178Molecular functionintegrin binding
GO_0044325Molecular functiontransmembrane transporter binding
GO_0005509Molecular functioncalcium ion binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameACTN3
Protein nameActinin alpha 3
Alpha-actinin-3 (Alpha-actinin skeletal muscle isoform 3) (F-actin cross-linking protein)
ACTN3 protein
Synonyms
DescriptionFUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

AccessionsENST00000513398.2
ENST00000511191.1
A0A087WSZ2
Q4JCP9
Q4VAM3
ENST00000502692.5
Q08043
D6RH00