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FLASH GENE
Symbol ANK2 contributors: mct/ - updated : 18-01-2014
HGNC name ankyrin 2, neuronal
HGNC id 493
Corresponding disease
LQT4 long QT syndrome with ventricular tachyarrhythmia, type 4
Location 4q26      Physical location : 113.739.238 - 114.304.894
Synonym name
  • ankyrin B
  • ankyrin, brain
  • ankyrin, nonerythroid
  • ankyrin-2, nonerythrocytic
  • brank-2
  • Synonym symbol(s) ANKYRIN-B, ANKB, FLJ38277, LQT4, brank-2
    DNA
    TYPE functioning gene
    STRUCTURE 334.11 kb     46 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    RRH 4q retinal pigment epithelium-derived rhodopsin homolog FLJ44691 4q25 FLJ44691 protein LOC391683 4 similar to keratin 19; keratin, type I cytoskeletal 19; keratin, type I, 40-kd; cytokeratin 19; 40-kDa keratin intermediate filament precursor gene EGF 4q25 epidermal growth factor (beta-urogastrone) ELOVL6 4q25 ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast) LOC132706 4q25 similar to heat shock factor binding protein 1 LOC132707 4q25 similar to Ac-like transposable element; putative Ac-like transposon; zinc finger, BED domain containing 1 LOC391684 4 similar to ribosomal protein L7-like 1 LOC391685 4 similar to KIAA2033 protein ENPEP 4q25 glutamyl aminopeptidase (aminopeptidase A) PITX2 4q25-q27 paired-like homeodomain transcription factor 2 LOC391686 4 similar to lysophospholipase I; lysophospholipase 1; lysophospholipid-specific lysophospholipase; acyl-protein thioesterase-1 LOC132719 4q25-q26 similar to beta-tubulin 4Q LOC391687 4 similar to ribosomal protein S12 FLJ39370 4q26 hypothetical protein FLJ39370 PRO0971 4q26 hypothetical protein PRO0971 T2BP 4q26 TRAF2 binding protein LAK 4q26 lymphocyte alpha-kinase LOC285412 4q26 similar to Epidermal Langerhans cell protein LCP1 NEUROG2 4q25 neurogenin 2 LOC91431 4q26 prematurely terminated mRNA decay factor-like FLJ11331 4q26 hypothetical protein FLJ11331 HDCMA18P 4q26 HDCMA18P protein LOC256085 4q26 similar to Tryptophan-rich protein (Congenital heart disease 5 protein) LOC389218 4 similar to Ribosomal protein L7A CG3314-PD LOC391688 4 similar to Transcription initiation factor TFIID 105 kDa subunit (TAFII-105) (TAFII105) LOC391689 4 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP) ANK2 4q25-q27 ankyrin 2, neuronal CAMK2D 4q25 calcium/calmodulin-dependent protein kinase (CaM kinase) II delta FLJ23548 4q26 hypothetical protein FLJ23548 UGT8 4q26 UDP glycosyltransferase 8 (UDP-galactose ceramide galactosyltransferase) NDST4 4q25-q26 UDP glycosyltransferase 8 (UDP-galactose ceramide galactosyltransferase) MRPS33P3 4q26 mitochondrial ribosomal protein S33 pseudogene 3 LOC132391 4q26 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18)
    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
  • 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
  • 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