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FLASH GENE
Symbol AHNAK2 contributors: mct - updated : 13-04-2016
HGNC name AHNAK nucleoprotein 2
HGNC id 20125
Location 14q32.33      Physical location : 105.403.590 - 105.444.694
Synonym name
  • chromosome 14 open reading frame 78
  • AHNAK2 protein
    • Synonym symbol(s) KIAA2019, C14orf78
    DNA
    TYPE functioning gene
    STRUCTURE 41.10 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 18317 - 5795 - 2014 24675079
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal domain funtioning as a PDZ domain, PDZ domain structure containing a bound class III ligand peptide
  • heptad repeat motifs similar to antiparallel beta-strands found in beta propeller proteins
    • HOMOLOGY
    Homologene
    FAMILY giant propeller-like proteins family
    CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    basic FUNCTION
  • may be involved in regulating excitation/contraction coupling of cardiomyocytes
  • is an important element of the FGF1 nonclassical export pathway
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • tight homodimerization may be central to the scaffolding functions of PRX and AHNAK2 in molecular complexes linking the extracellular matrix to the cytoskeletal network
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associated with L-type cacium channels
  • in heat-shocked cells, FGF1 and the C-terminal fragment of AHNAK2 colocalized with F-actin in the vicinity of the cell membrane
    • cell & other
    REGULATION
    Other phosphorylated by protein kinase
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS