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Aliases for ACTN2 Gene

Aliases for ACTN2 Gene

  • Actinin Alpha 2 2 3 5
  • F-Actin Cross-Linking Protein 3 4
  • Alpha-Actinin Skeletal Muscle Isoform 2 4
  • Alpha-Actinin Skeletal Muscle 3
  • Alpha-Actinin-2 3
  • CMD1AA 3
  • CMH23 3

External Ids for ACTN2 Gene

Previous GeneCards Identifiers for ACTN2 Gene

  • GC01P234982
  • GC01P232303
  • GC01P233146
  • GC01P233890
  • GC01P233175
  • GC01P234916
  • GC01P236849
  • GC01P207337

Summaries for ACTN2 Gene

Entrez Gene Summary for ACTN2 Gene

  • 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 muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]

GeneCards Summary for ACTN2 Gene

ACTN2 (Actinin Alpha 2) is a Protein Coding gene. Diseases associated with ACTN2 include Cardiomyopathy, Dilated, 1Aa, With Or Without Lvnc and Actn2-Related Dilated Cardiomyopathy. Among its related pathways are Interleukin-3, 5 and GM-CSF signaling and Activation of NMDA receptor upon glutamate binding and postsynaptic events. GO annotations related to this gene include calcium ion binding and protein dimerization activity. An important paralog of this gene is ACTN1.

UniProtKB/Swiss-Prot for ACTN2 Gene

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

Gene Wiki entry for ACTN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTN2 Gene

Genomics for ACTN2 Gene

Regulatory Elements for ACTN2 Gene

Enhancers for ACTN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ACTN2 on UCSC Golden Path with GeneCards custom track

Promoters for ACTN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACTN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACTN2 Gene

Chromosome:
1
Start:
236,686,454 bp from pter
End:
236,764,631 bp from pter
Size:
78,178 bases
Orientation:
Plus strand

Genomic View for ACTN2 Gene

Genes around ACTN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTN2 Gene

Proteins for ACTN2 Gene

  • Protein details for ACTN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35609-ACTN2_HUMAN
    Recommended name:
    Alpha-actinin-2
    Protein Accession:
    P35609
    Secondary Accessions:
    • B1ANE4
    • B2RCS5
    • Q86TF4
    • Q86TI8

    Protein attributes for ACTN2 Gene

    Size:
    894 amino acids
    Molecular mass:
    103854 Da
    Quaternary structure:
    • Homodimer; antiparallel. Also forms heterodimers with ACTN3. Interacts with ADAM12, MYOZ1, MYOZ2 and MYOZ3. Interacts via its C-terminal region with the LDB3 PDZ domain. Interacts with XIRP2. Interacts with DST isoform 1 (via N-terminus). Interacts with PARVB.

    Three dimensional structures from OCA and Proteopedia for ACTN2 Gene

    Alternative splice isoforms for ACTN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACTN2 Gene

Post-translational modifications for ACTN2 Gene

  • Ubiquitinated by FBXL22, leading to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTN2 Gene

No data available for DME Specific Peptides for ACTN2 Gene

Domains & Families for ACTN2 Gene

Gene Families for ACTN2 Gene

Graphical View of Domain Structure for InterPro Entry

P35609

UniProtKB/Swiss-Prot:

ACTN2_HUMAN :
  • Contains 1 actin-binding domain.
  • Belongs to the alpha-actinin family.
  • Contains 4 spectrin repeats.
Domain:
  • Contains 1 actin-binding domain.
  • Contains 2 CH (calponin-homology) domains.
  • Contains 2 EF-hand domains.
Family:
  • Belongs to the alpha-actinin family.
Similarity:
  • Contains 4 spectrin repeats.
genes like me logo Genes that share domains with ACTN2: view

Function for ACTN2 Gene

Molecular function for ACTN2 Gene

GENATLAS Biochemistry:
actinin,alpha 2,actin filament cross-linking,calcium insensitive,expressed in skeletal and cardiac muscle,interacting with actin and the carboxyterminal region of dystrophin
UniProtKB/Swiss-Prot Function:
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

Gene Ontology (GO) - Molecular Function for ACTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005178 integrin binding TAS 8104223
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA,IPI 9501083
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 25433700
genes like me logo Genes that share ontologies with ACTN2: view
genes like me logo Genes that share phenotypes with ACTN2: view

Human Phenotype Ontology for ACTN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACTN2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ACTN2 Gene

Localization for ACTN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTN2 Gene

Cytoplasm, myofibril, sarcomere, Z line. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACTN2 Gene COMPARTMENTS Subcellular localization image for ACTN2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 3
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ACTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton NAS 12809483
GO:0005884 actin filament TAS 1339456
GO:0005886 colocalizes_with plasma membrane IDA 19815520
genes like me logo Genes that share ontologies with ACTN2: view

Pathways & Interactions for ACTN2 Gene

SuperPathways for ACTN2 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Activation of NMDA receptor upon glutamate binding and postsynaptic events
3 Platelet activation, signaling and aggregation
4 Sertoli-Sertoli Cell Junction Dynamics
5 Transmission across Chemical Synapses
genes like me logo Genes that share pathways with ACTN2: view

Gene Ontology (GO) - Biological Process for ACTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0002576 platelet degranulation TAS --
GO:0006936 muscle contraction IEA --
GO:0007155 cell adhesion TAS 10656685
GO:0030035 microspike assembly IDA 12356918
genes like me logo Genes that share ontologies with ACTN2: view

No data available for SIGNOR curated interactions for ACTN2 Gene

Drugs & Compounds for ACTN2 Gene

(2) Drugs for ACTN2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ACTN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ACTN2: view

Transcripts for ACTN2 Gene

Unigene Clusters for ACTN2 Gene

Actinin, alpha 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACTN2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACTN2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ·
SP1: - - -
SP2: - - - - -
SP3:
SP4: - - - -
SP5:
SP6: - - -
SP7:
SP8:

ExUns: 20c ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b · 24c
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ACTN2 Gene

GeneLoc Exon Structure for
ACTN2
ECgene alternative splicing isoforms for
ACTN2

Expression for ACTN2 Gene

mRNA expression in normal human tissues for ACTN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACTN2 Gene

This gene is overexpressed in Muscle - Skeletal (x24.1), Heart - Left Ventricle (x15.4), and Heart - Atrial Appendage (x7.4).

Protein differential expression in normal tissues from HIPED for ACTN2 Gene

This gene is overexpressed in Heart (41.1), Fetal heart (15.0), and Esophagus (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACTN2 Gene



NURSA nuclear receptor signaling pathways regulating expression of ACTN2 Gene:

ACTN2

SOURCE GeneReport for Unigene cluster for ACTN2 Gene:

Hs.498178

mRNA Expression by UniProt/SwissProt for ACTN2 Gene:

P35609-ACTN2_HUMAN
Tissue specificity: Expressed in both skeletal and cardiac muscle.
genes like me logo Genes that share expression patterns with ACTN2: view

Primer Products

No data available for Protein tissue co-expression partners for ACTN2 Gene

Orthologs for ACTN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACTN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACTN2 34
  • 92.54 (n)
  • 98.66 (a)
ACTN2 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTN2 34
  • 92.51 (n)
  • 99.33 (a)
ACTN2 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Actn2 34
  • 91.09 (n)
  • 99.22 (a)
Actn2 16
Actn2 35
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACTN2 34
  • 99.53 (n)
  • 99.88 (a)
ACTN2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Actn2 34
  • 90.42 (n)
  • 99.22 (a)
oppossum
(Monodelphis domestica)
Mammalia ACTN2 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACTN2 35
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACTN2 34
  • 82.81 (n)
  • 95.19 (a)
ACTN2 35
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACTN2 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia actn2 34
  • 76.55 (n)
  • 87.47 (a)
Str.15742 34
zebrafish
(Danio rerio)
Actinopterygii actn2 34
  • 76.14 (n)
  • 85.01 (a)
actn2 35
  • 85 (a)
OneToMany
ACTN2 (2 of 2) 35
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Actn 35
  • 67 (a)
OneToOne
Actn 36
  • 66 (a)
worm
(Caenorhabditis elegans)
Secernentea atn-1 35
  • 60 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10901 35
  • 65 (a)
OneToOne
Species where no ortholog for ACTN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACTN2 Gene

ENSEMBL:
Gene Tree for ACTN2 (if available)
TreeFam:
Gene Tree for ACTN2 (if available)

Paralogs for ACTN2 Gene

(17) SIMAP similar genes for ACTN2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ACTN2: view

Variants for ACTN2 Gene

Sequence variations from dbSNP and Humsavar for ACTN2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs35997569 - 236,751,623(+) TCACC(A/G)TGGAT reference, missense
rs121434525 Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA) 236,686,699(+) CGTGC(A/G)GTACA reference, missense, utr-variant-5-prime
rs727502886 Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA), Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) 236,719,007(+) TTGGC(A/G)CTGAA reference, missense, utr-variant-5-prime
rs200248944 Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) 236,747,744(+) GGGAA(C/T)GCTTA reference, missense
rs200631005 Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) 236,751,561(+) GGTGG(A/C/G)GAAGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ACTN2 Gene

Variant ID Type Subtype PubMed ID
dgv318e59 CNV duplication 20981092
dgv80e214 CNV loss 21293372
dgv865n54 CNV loss 21841781
esv1082367 CNV deletion 17803354
esv1209958 CNV deletion 17803354
esv1676660 CNV deletion 17803354
esv2005187 CNV deletion 18987734
esv25038 CNV gain 19812545
esv2641685 CNV deletion 19546169
esv2649810 CNV deletion 19546169
esv2725496 CNV deletion 23290073
esv2725507 CNV deletion 23290073
esv2725518 CNV deletion 23290073
esv2725529 CNV deletion 23290073
esv2725540 CNV deletion 23290073
esv2725551 CNV deletion 23290073
esv2725562 CNV deletion 23290073
esv2725573 CNV deletion 23290073
esv2741411 CNV deletion 23290073
esv275031 CNV loss 21479260
esv2759006 CNV loss 17122850
esv2762180 CNV gain 21179565
esv2762228 CNV loss 21179565
esv2763410 CNV gain 21179565
esv28532 CNV gain+loss 19812545
esv995766 CNV loss 20482838
nsv1005877 CNV gain 25217958
nsv1013895 CNV loss 25217958
nsv1075411 CNV duplication 25765185
nsv1141165 CNV duplication 24896259
nsv1149404 CNV duplication 26484159
nsv428335 CNV gain 18775914
nsv477681 CNV novel sequence insertion 20440878
nsv4988 CNV insertion 18451855
nsv499679 CNV gain 21111241
nsv4999 CNV deletion 18451855
nsv509690 CNV insertion 20534489
nsv509702 CNV insertion 20534489
nsv510599 OTHER complex 20534489
nsv511744 CNV loss 21212237
nsv820436 CNV deletion 20802225
nsv820994 CNV deletion 20802225
nsv8924 CNV gain+loss 18304495
nsv954000 CNV deletion 24416366

Variation tolerance for ACTN2 Gene

Residual Variation Intolerance Score: 22.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.40; 63.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACTN2 Gene

Human Gene Mutation Database (HGMD)
ACTN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTN2 Gene

Disorders for ACTN2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for ACTN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1aa, with or without lvnc
  • cardiomyopathy, hypertrophic, 23, with or without lvnc
actn2-related dilated cardiomyopathy
  • cmd1aa
cardiomyopathy
  • cardiomyopathies
atrial standstill, digenic
  • atrial cardiomyopathy with heart block
actn2-related familial hypertrophic cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search ACTN2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACTN2_HUMAN
  • Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:14567970, ECO:0000269 PubMed:25224718}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:20022194, ECO:0000269 PubMed:25173926}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACTN2

Genetic Association Database (GAD)
ACTN2
Human Genome Epidemiology (HuGE) Navigator
ACTN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACTN2
genes like me logo Genes that share disorders with ACTN2: view

No data available for Genatlas for ACTN2 Gene

Publications for ACTN2 Gene

  1. Cloning and characterization of two human skeletal muscle alpha- actinin genes located on chromosomes 1 and 11. (PMID: 1339456) Beggs A.H. … Kunkel L.M. (J. Biol. Chem. 1992) 2 3 4 22 65
  2. Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. (PMID: 20022194) Chiu C. … Semsarian C. (J. Am. Coll. Cardiol. 2010) 3 4 22 65
  3. alpha-actinin-3 and performance. (PMID: 19696509) Yang N. … North K. (Med Sport Sci 2009) 3 22 46 65
  4. ZASP: a new Z-band alternatively spliced PDZ-motif protein. (PMID: 10427098) Faulkner G. … Lanfranchi G. (J. Cell Biol. 1999) 3 4 22 65
  5. Fine mapping and genomic structure of ACTN2, the human gene coding for the sarcomeric isoform of alpha-actinin-2, expressed in skeletal and cardiac muscle. (PMID: 10548523) Tiso N. … Danieli G.A. (Biochem. Biophys. Res. Commun. 1999) 3 4 22 65

Products for ACTN2 Gene

Sources for ACTN2 Gene

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