Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	89
Gene name	Actinin alpha 3
Gene symbol	ACTN3
Synonyms (NCBI Gene)	ACTN3D
Chromosome	11
Chromosome location	11q13.2
Summary	This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containin

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1815739	C>A,T	Benign, pathogenic, affects	Stop gained, synonymous variant, coding sequence variant

Show/Hide all (62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005178	Function	Integrin binding	IEA
GO:0005178	Function	Integrin binding	TAS	8104223
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11171996, 11309420, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005884	Component	Actin filament	TAS	1339456
GO:0005886	Component	Plasma membrane	IBA
GO:0005903	Component	Brush border	IEA
GO:0005925	Component	Focal adhesion	IMP	16807302
GO:0008307	Function	Structural constituent of muscle	TAS	1339456
GO:0014728	Process	Regulation of the force of skeletal muscle contraction	IEA
GO:0014728	Process	Regulation of the force of skeletal muscle contraction	ISS
GO:0014732	Process	Skeletal muscle atrophy	IEA
GO:0014732	Process	Skeletal muscle atrophy	ISS
GO:0014883	Process	Transition between fast and slow fiber	IEA
GO:0014883	Process	Transition between fast and slow fiber	ISS
GO:0014894	Process	Response to denervation involved in regulation of muscle adaptation	IEA
GO:0014894	Process	Response to denervation involved in regulation of muscle adaptation	ISS
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030054	Component	Cell junction	IBA
GO:0030054	Component	Cell junction	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0031143	Component	Pseudopodium	IEA
GO:0031143	Component	Pseudopodium	TAS	1629252
GO:0031448	Process	Positive regulation of fast-twitch skeletal muscle fiber contraction	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042981	Process	Regulation of apoptotic process	NAS	16807302
GO:0042995	Component	Cell projection	IBA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	19943616
GO:0045820	Process	Negative regulation of glycolytic process	IEA
GO:0045820	Process	Negative regulation of glycolytic process	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048041	Process	Focal adhesion assembly	IMP	16807302
GO:0048633	Process	Positive regulation of skeletal muscle tissue growth	IEA
GO:0048633	Process	Positive regulation of skeletal muscle tissue growth	ISS
GO:0048743	Process	Positive regulation of skeletal muscle fiber development	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0055001	Process	Muscle cell development	IBA
GO:0060349	Process	Bone morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	IEA
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	ISS
GO:0090257	Process	Regulation of muscle system process	IEA
GO:0090324	Process	Negative regulation of oxidative phosphorylation	IEA
GO:0090324	Process	Negative regulation of oxidative phosphorylation	ISS
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	25590636
GO:1900159	Process	Positive regulation of bone mineralization involved in bone maturation	IEA
GO:1901078	Process	Negative regulation of relaxation of muscle	IEA
GO:1903715	Process	Regulation of aerobic respiration	IEA
GO:1903715	Process	Regulation of aerobic respiration	ISS
GO:1904025	Process	Positive regulation of glucose catabolic process to lactate via pyruvate	IEA
GO:1904025	Process	Positive regulation of glucose catabolic process to lactate via pyruvate	ISS

MIM	HGNC	e!Ensembl
102574	165	ENSG00000248746

Q08043

Protein name

Alpha-actinin-3 (Alpha-actinin skeletal muscle isoform 3) (F-actin cross-linking protein)

Protein function

F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

PDB

1TJT , 1WKU , 3LUE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	45 → 150	Calponin homology (CH) domain	Domain
PF00307	CH	158 → 265	Calponin homology (CH) domain	Domain
PF00435	Spectrin	288 → 398	Spectrin repeat	Domain
PF00435	Spectrin	408 → 513	Spectrin repeat	Domain
PF00435	Spectrin	523 → 634	Spectrin repeat	Domain
PF00435	Spectrin	644 → 747	Spectrin repeat	Domain
PF08726	EFhand_Ca_insen	831 → 897	Ca2+ insensitive EF hand	Domain

Tissue specificity

TISSUE SPECIFICITY: Expression restricted to fast (type 2) skeletal muscle fibers (at protein level). {ECO:0000269|PubMed:10192379, ECO:0000269|PubMed:11440986}.

Sequence

MMMVMQPEGLGAGEGRFAGGGGGGEYMEQEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLR
KAGTQIENIEEDFRNGLKLMLLLEVISGERLPRPDKGKMRFHKIANVNKALDFIASKGVK
LVSIGAEEIVDGNLKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNV
QNFHTSWKDGLALCALIHRHRPDLIDYAKLRKDDPIGNLNTAFEVAEKYLDIPKMLDAED
IVNTPKPDEKAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENEKLMEEYEKLASEL
LEWIRRTVPWLENRVGEPSMSAMQRKLEDFRDYRRLHKPPRIQEKCQLEINFNTLQTKLR
LSHRPAFMPSEGKLVSDIANAWRGLEQVEKGYEDWLLSEIRRLQRLQHLAEKFRQKASLH
EAWTRGKEEMLSQRDYDSALLQEVRALLRRHEAFESDLAAHQDRVEHIAALAQELNELDY
HEAASVNSRCQAICDQWDNLGTLTQKRRDALERMEKLLETIDRLQLEFARRAAPFNNWLD
GAVEDLQDVWLVHSVEETQSLLTAHDQFKATLPEADRERGAIMGIQGEIQKICQTYGLRP
CSTNPYITLSPQDINTKWDMVRKLVPSCDQTLQEELARQQVNERLRRQFAAQANAIGPWI
QAKVEEVGRLAAGLAGSLEEQMAGLRQQEQNIINYKTNIDRLEGDHQLLQESLVFDNKHT
VYSMEHIRVGWEQLLTSIARTINEVENQVLTRDAKGLSQEQLNEFRASFNHFDRKQNGMM
EPDDFRACLISMGYDLGEVEFARIMTMVDPNAAGVVTFQAFIDFMTRETAETDTTEQVVA
SFKILAGDKNYITPEELRRELPAKQAEYCIRRMVPYKGSGAPAGALDYVAFSSALYGESD
L

Sequence length

901

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy		Striated Muscle Contraction

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ACTN3-related disorder	Uncertain significance; Likely benign; Benign	rs199599736, rs34515982, rs115296201, rs747900211, rs1671064, rs114371258, rs527798603, rs201937354, rs192180462, rs144546392, rs2229456, rs2229455, rs540874, rs377076795, rs371024898 View all (14 more)	RCV003963783 RCV003894708 RCV003894712 RCV003964610 RCV003974384 RCV003906808 RCV003964498 RCV003903894 RCV003911966 RCV003916851 RCV003979369 RCV003974065 RCV003984467 RCV003941416 RCV003941712 RCV003961485 RCV003914400 RCV003914613 RCV003924354 RCV003924504 RCV003934383 RCV003944733 RCV003922294 RCV003926987 RCV003949173 RCV003954537 RCV003964297 RCV003974747 RCV003962058
Uterine carcinosarcoma	Benign	rs77239910	RCV005935313

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	23469062
Bruxism	Associate	32552448, 34773324
Dentofacial Deformities	Associate	34773324
Distal Myopathies	Associate	32726330
Ehlers Danlos syndrome type 6	Associate	27819725
Facial Asymmetry	Associate	32726330
Glycogen Storage Disease Type II	Associate	25103075, 34734785
Glycogen Storage Disease Type V	Inhibit	35563042
Heart Failure	Associate	25059829
Hypertension	Associate	25059829
Hypomagnesemia primary	Associate	25059829
Inflammation	Associate	36567902
Insulin Resistance	Associate	21299892
Malocclusion	Associate	25439211, 29103441
Malocclusion Angle Class II	Associate	25439211
Metabolic Syndrome	Associate	26107372
Muscle Weakness	Associate	32343055
Muscular Atrophy	Associate	23469062, 35563042, 36567902
Muscular Diseases	Associate	34069995, 39808562
Muscular Dystrophy Duchenne	Associate	32343055, 35897138
Musculoskeletal Diseases	Associate	34069995
Myalgia	Associate	36567902
Neuromuscular Diseases	Associate	39808562
Obesity	Associate	35937778
Oculocutaneous albinism type 2	Associate	23145141
Osteoporosis	Associate	28626757
Osteoporotic Fractures	Associate	28626757
Sarcopenia	Associate	28626757
Spinal Cord Injuries	Associate	23145141

ACTN3 (actinin alpha 3)