ACTN3 (actinin alpha 3)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
89
Gene name Gene Name - the full gene name approved by the HGNC.
Actinin alpha 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACTN3
Synonyms (NCBI Gene) Gene synonyms aliases
ACTN3D
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
102574 165 ENSG00000248746
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cytoskeleton in muscle cells
Arrhythmogenic right ventricular cardiomyopathy 		  Striated Muscle Contraction
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Nonatopic asthma N/A N/A GWAS
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Show/Hide Text Mining Associations (29)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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