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FLASH GENE
Symbol ANK3 contributors: shn/npt - updated : 20-10-2016
HGNC name ankyrin 3, node of Ranvier (ankyrin G)
HGNC id 494
Location 10q21.2      Physical location : 61.788.159 - 62.149.488
Synonym name
  • ankyrin 3
  • ankyrin G119
  • ankyrin-3, node of Ranvier
    Synonym symbol(s) ANKYRIN-G, ANKG, FLJ45464, RP11-369L1.1, MRT37
    DNA
    TYPE functioning gene
    STRUCTURE 707.23 kb     44 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Map The ANK3 gene was mapped to 10q21 by fluorescence in situ hybridization
    Authors Kapfhamer et al, 1995
    regionally located cen - D10S207 - D10S589 - ANK3 - D10S1794 - D10S1640 - qter
    RNA
    TRANSCRIPTS type messenger
    text found in the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    44 - 17035 480 4377 brain-specific 1995 7836469
    globular head domain with membrane and spectrin binding activities
    21 splicing 7218 270 1001 brain-specific 1995 7836469
    may be a constituent of a neurofascin/NRCAM/ankyrin g complex
    44 - 9356 - 1861 - 1995 7836469
    44 - 9599 - 1868 - 1995 7836469
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Nervousbrain   highly
    Reproductivefemale systembreastmammary gland highly
     female systemplacenta  highly
    Visualeyeretina  specific
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte Homo sapiens
    Nervousneuron
    Visualrod photoreceptor
    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
  • a regulatory domain with alternatively spliced isoforms
  • a ZU5 domain
  • a death domain
  • Obscurin/Titin-Binding-related Domain (OTBD), a muscle-specific insert of the C-terminal domain which is highly conserved among ankyrin genes, that confer ankyrins with a gain of function in vertebrates, bringing further consolidation and resilience of the linkage between sarcomeres and sarcolemma
  • HOMOLOGY
    interspecies ortholog to Ank3, Rattus norvegicus
    ortholog to Ank3, Mus musculus
    homolog to LOC569152, Danio rerio
    Homologene
    FAMILY
  • ankyrins family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • plays a role in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains
  • axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems
  • ankyrin-G is required for transport of CNG channels to the plasma membrane of rod outer segments and is required for rod outer segments morphogenesis
  • ankyrin-G plays role(s) in either assembly and/or maintenance of rod outer segments
  • restricts ion channel diffusion at the axonal initial segment before the establishment of the diffusion barrier
  • ANK3-dependent subventricular zone (SVZ) niche assembly is required for the continued production of new neurons
  • involved in neuronal development and signaling
  • plays a role in intellectual functioning
  • role for ANK3 in modulating the biophysical properties of KCNA1, implicated in renal magnesium handling
  • functions as an adaptor to link Nav channels to KIF5B during axonal transport before anchoring them to the axon initial segment (AIS) and nodes of Ranvier
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS development , nervous system
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SCN2A1
  • binds to the cytoplasmic domain of CDH1 at a conserved site distinct from that of CTNNB
  • binds to N-cadherin and probably other type 1 classical cadherins (with cadherin partners thus could direct formation of a variety of specialized membrane domains at sites of cell-cell contact, ranging from synapses in the nervous system to inter-calated discs in cardiomyocytes)
  • SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A
  • Cyclic nucleotide–gated (CNG) channels
  • SPTBN4 is recruited to axon initial segments and nodes of Ranvier by ANK3
  • ANK3 expression is controlled by FOXJ1, a transcriptional regulator of multicilia formation
  • CD44 of control chondrocytes was found to interact and co-immunoprecipitate with both the 65- and 130-kDa isoforms of ANK3
  • ANK3 was identified as a binding partner of KCNA1 and was enriched in isolated distal convoluted tubules as compared to whole kidney
  • KIF5B directly binds to ankyrin-G (ANK3) to transport Nav channels into axons
  • constitutive binding of SCN10A with ANK3 could contribute to the pathological aspects of illnesses where SCN10A is ectopically expressed in CNS neurons
  • PRICKLE2 regulates ANK3 distribution by controlling the proper localization of IGSF9B
  • cell & other
  • intermediate filament associated protein (IFAP, type III)
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in a consanguineous family with moderate intellectual disability (ID), an ADHD-like phenotype and behavioral problems
    Susceptibility
  • to bipolar disorder (BD)
  • to late-onset Alzheimer's disease
  • to Autism spectrum disorders (ASDs)
  • Variant & Polymorphism SNP
  • increasing the risk of late-onset Alzheimer's disease
  • susceptibility gene specific to BD
  • association between ANK3 mutations and ASD susceptibility
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS