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FLASH GENE
Symbol ANK2 contributors: mct/ - updated : 18-01-2016
HGNC name ankyrin 2, neuronal
HGNC id 493
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
45 splicing 7988 220 1872 major form of ankyrin in adult brain 2007 17242276
46 splicing 14243 430.3 3957 - 2007 17242276
47 - 8082 - 1863 - 2007 17242276
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Nervousbraindiencephalonamygdala highly
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac  
Muscularstriatumskeletal  
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Muscularmyocyte
Nervousglia
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N terminal band 3 binding domain made of 24 tandem subunits of 33 amino-acids (the SW16/Ank repeat)
  • a spectrin binding domain
  • a regulatory domain with alternatively spliced isoforms
  • conjugated PhosphoP
    HOMOLOGY
    interspecies ortholog to murine Ank2
    homolog to Drosophila Ank2
    homolog to C.elegans unc-44
    Homologene
    FAMILY
    CATEGORY adaptor , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,intermed filament
    text membrane of neurons
    basic FUNCTION
  • linking the integral membrane proteins to the underlying spectrin-actin cytoskeleton
  • playing key roles in activities such as cell
  • motility, activation, proliferation, contact and the maintenance of specialized membrane domains
  • participating in expression of multiple ion-channel /transporter proteins
  • required for coordinated assembly of Na/Ca exchanger, Na/K ATPase, and inositol trisphosphate INSP3 receptor at transverse-tubule/sarcoplasmic reticulum sites in cardiomyocytes
  • playing a pivotal role in the function of the ITPR3 signaling microdomain
  • in heart, is critical for regulating membrane protein expression
  • having a role to stabilize the interaction between ATP1A1 and ITPR3 and is required for the stabilization of the signaling function of the ATP1A1/ITPR3 complex
  • adaptor required for sarcolemmal localization of dystrophin, as well as DCTN4
  • is subject to alternative splicing that gives rise to unique polypeptides with diverse roles in cardiac function
  • role of ankyrin-B in normal cardiac electric activity
  • role of ANK2 in cardiac automaticity
  • role for in regulating KCNJ5 channel gating
  • may act as a membrane scaffolding protein to link KCNJ11 with the underlying actin- and spectrin-based cytoskeleton
  • regulates KCNJ11 membrane expression and function in heart
  • multifunctional adapter molecule implicated in membrane targeting of ion channels, transporters, and signaling molecules in excitable cells
  • CDH13, GRM8, ANK2, SLC16A6, ARSG, RIMBP2 and DCLK1 having role in hearing function
  • ANK2 is required for PRX membrane anchoring and for maintenance of lens fiber cell hexagonal geometry, membrane skeleton organization, and biomechanics
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • direct binding of SPTBN1 to ANK2 is required for the normal targeting of SPTBN1 in neonatal cardiomyocytes, but ANK2 localization and function are independent of SPTBN1
  • binds to DCTN4 (DCTN4 and a subset of microtubules disappear from sarcolemmal sites in ANK2-depleted muscle)
  • obscurin/ANK2 interaction is critical for recruitment of PPP2A to the cardiac M-line
  • associates with the cardiac KCNJ5 via KCNJ11, a key component of the cellular machinery required for intrinsic cardioprotection from ischemia
  • directly associates with KCNJ11 and is necessary for normal KCNJ11 membrane expression in cardiomyocytes
  • binds to dystrophin, DCTN4, and microtubules and is required for sarcolemmal association of these proteins as well as dystroglycan
  • OBSCN by targeting ANK2 at the M band, contributes to the organization of subsarcolemma microtubules, localization of dystrophin at costameres, and maintenance of sarcolemmal integrity
  • SPTBN4 is required for CAMK2D, ANK2, KCNJ11, and ABCC8 expression in beta cells
  • ANK2 is required for membrane association of PRX in lens fibers and colocalizes with PRX in hexagonal fiber cells
  • ANK2 binds to RABGAP1L and recruits it to PI3P-positive organelles, where RABGAP1L inactivates RAB22A, and promotes polarized trafficking to the leading edge of migrating fibroblasts.
  • cell & other
  • binding to intermediate filament associated protein (IFAP, type III)
  • REGULATION
    Other a tissue-specific and developmentally regulated manner
    phosphorylated at multiple sites by different protein kinases and protein's structure and function regulated by each phosphorylation event
    ASSOCIATED DISORDERS
    corresponding disease(s) LQT4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    associated with atrial fibrillation
    Susceptibility to variation of QT interval length
    Variant & Polymorphism other
  • common genetic variants juxtaposed with novel exons in the distant 5prime genomic region of ANK2 influence the QT interval length in the general population
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • AnkB dysfunction results in sinoatrial node abnormalities in an isolated mouse atria preparation