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FLASH GENE
Symbol ACTN2 contributors: mct - updated : 22-12-2011
HGNC name actinin, alpha 2
HGNC id 164
Location 1q43      Physical location : 236.849.769 - 236.927.558
Synonym name
  • F-actin cross-linking protein
  • alpha-actinin skeletal muscle
  • Synonym symbol(s) CMD1AA
    DNA
    TYPE functioning gene
    STRUCTURE 77.79 kb     21 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    LOC284527 1q42.3 hypothetical gene supported by BC016972 TOMM20 1q42 hypothetical gene supported by BC016972 KIAA0117 1q42.3 KIAA0117 protein RBP1L1 1q42.1-q43 retinoblastoma binding protein 1-like 1 GGPS1 1q43 geranylgeranyl diphosphate synthase 1 TBCE 1q42.3 tubulin-specific chaperone e MGC39558 1q42.3 hypothetical protein MGC39558 GNG4 1q42.3 guanine nucleotide binding protein (G protein), gamma 4 CHS1 1q42.1-q42.2 Chediak-Higashi syndrome 1 NID 1q43 nidogen (enactin) LOC343508 1q42.3 similar to aconitase 2 TM7SF1 1q42-q43 transmembrane 7 superfamily member 1 (upregulated in kidney) ERO1LB 1q42.2-q43 ERO1-like beta (S. cerevisiae) EDARADD 1q42.3 EDAR-associated death domain ENO1P 1q41-q42 enolase 1, (alpha) pseudogene LGALS8 1q42-q43 lectin, galactoside-binding, soluble, 8 (galectin 8) FLJ10359 1q42.3 protein BAP28 ACTN2 1q42-q43 actinin, alpha 2 MTR 1q43 5-methyltetrahydrofolate-homocysteine methyltransferase LOC388754 1 similar to 60S ribosomal protein L35 RYR2 1q42.1-q43 ryanodine receptor 2 (cardiac) ZP4 1q43 zona pellucida glycoprotein 4 LOC391178 1 hypothetical gene supported by AL122093 LOC391179 1 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 4528 - 894 - 1999 10328815
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrain   moderately
    Reproductivemale systemprostate  moderately
    Respiratorylung   moderately
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a pleckstrin homology (PH) domain
  • one actin-binding domain
  • two calponin homology domain
  • four spectrin repeats
  • two EF hand calcium binding domain
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Actn2
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • playing a role in anchor actin to a variety of intracellular structures
  • association of KCNN2 channel with ACTN2 localizes the channel to the entry of external Ca(2+) source, which regulate the channel function
  • potentially participating with ACTN3 in sequestering parafibromin (HRPT2) in the cytoplasmic compartment
  • required for the functional membrane localization of a Ca2+-activated K+ channel (KCNN2)
  • major component of the Z-disk in skeletal muscle, where they crosslink actin and other structural proteins to maintain an ordered myofibrillar array
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with actin,the carboxyterminal region of dystrophin,the cytoplasmic tail of ADAM12, the N terminus of KCNA and KCNA5
  • direct interaction of PDLIM2 with alpha-actinins and filamin
  • physical and functional interactions between PKD2 and ACTN2 may play an important role in abnormal cell adhesion, proliferation and migration observed in ADPKD
  • CSRP3
  • interacts with rapsyn, a scaffold protein essential for neuromuscular junction formation (RAPSN-actinin interaction can be disrupted by inhibiting ABL1 and by cholinergic stimulation)
  • interacting with KCNN2 (membrane localization of KCNN2 is dependent on its interacting protein, ACTN2, a major F-actin crosslinking protein)
  • PDLIM3 binds ACTN2 in the Z-discs of muscle, and the ZASP-like motif is needed for this interaction
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    mutatd with CSRP3 in dilated cardiomyopathy with endocardial fibroelastosis
    constitutional germinal mutation      
    in hypertrophic cardiomyopathy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS