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FLASH GENE
Symbol PANK2 contributors: mct - updated : 26-10-2016
HGNC name pantothenate kinase 2
HGNC id 15894
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
isoforms Precursor pPANK2 identified in brain tissues
HOMOLOGY
interspecies ortholog to murine Pank2
ortholog to Drosophila fumble
intraspecies paralog to PANKs
Homologene
FAMILY
  • type II pantothenate kinase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,interspace
    intracellular,cytoplasm,cytosolic
    text
  • PANK2 short GFP in the cytoplasm only
  • PANK2 long GFP in the mitochondria and nucleus
    • basic FUNCTION
  • a mitochondrial enzyme that catalyses the first regulatory step of Coenzyme A synthesis
  • catalyzing the cytosolic phosphorylation of pantothenate (vitamin B5) and derivatives
  • essential regulatory enzyme in coenzyme A biosynthesis
  • plays a central role in phospholipid synthesis and membranogenesis
  • encodes a mitochondrial protein involved in Coenzyme A synthesis
  • PANK1 and PANK2 can compensate for each other to supply tissue CoA, but PANK1 is more important to CoA levels in liver whereas PANK2 contributes more to CoA synthesis in the brain
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism vitamin
    signaling sensory transduction/vision
    regulatory enzyme in CoA biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • potential regulators of PANK2 expression, including NFY, FOXN4 and the human heterogeneous nuclear ribonucleoprotein A/B family
    • cell & other
    REGULATION
    activated by palmitoylcarnitine, a potent activator of PANK2 that functions to competitively antagonize acetyl-CoA inhibition
    ASSOCIATED DISORDERS
    corresponding disease(s) PKAN , HARP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Pank2(-/-) mouse model did not recapitulate the human disease but showed azoospermia and mitochondrial dysfunctions