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FLASH GENE
Symbol PANK2 contributors: mct - updated : 26-10-2016
HGNC name pantothenate kinase 2
HGNC id 15894
Corresponding disease
HARP hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa and pallidal degeneration
PKAN pantothenate kinase-associated neurodegeneration
Location 20p13      Physical location : 3.869.485 - 3.904.501
Synonym name
  • pantothenic acid kinase
  • neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)
  • pantothenate kinase 2, mitochondrial
  • Synonym symbol(s) NBIA1, C20orf48, FLJ11729, FLJ17232, MGC15053, HARP, HSS, PKAN
    EC.number 2.7.1.33
    DNA
    TYPE functioning gene
    STRUCTURE 41.04 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box)
    cytosine-phosphate-guanine/HTF
    text structure
  • six exons for the core protein preceded by a series of alternative exons, including only one 1C with an open reading frame in frame to exon 2
  • GC-rich PANK2 promoter that drives expression of the sPANK2 isoform, regulated by NFYA, NFYB, NFYC, FOXN4 and HNRNPAB
  • presence of an additional TATA-dependent PANK2 promoter would provide an intriguing mechanism for tissue specific expression of the pPANK2 isoform
  • promoter may be regulated by NFYA, NFYB, NFYC
  • MAPPING cloned Y linked N status provisional
    Map see NBIA1
    Physical map
    FLJ13149 20p13 hypothetical protein FLJ13149 ProSAPiP1 20p13 ProSAPiP1 protein C20orf116 20p13 chromosome 20 open reading frame 116 ITPA 20p inosine triphosphatase (nucleoside triphosphate pyrophosphatase) SLC4A11 20p12 solute carrier family 4, sodium bicarbonate transporter-like, member 11 C20orf194 20p13 chromosome 20 open reading frame 194 UBE2V1P1 20p13 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 1 ATRN 20p13 attractin SF3A3P 20p13 splicing factor 3a, subunit 3 pseudogene GFRA4 20p13-p12 GDNF family receptor alpha 4 ADAM33 20p13 a disintegrin and metalloproteinase domain 33 SN 20p13 sialoadhesin HSPA12B 20p13 heat shock 70kD protein 12B C20orf27 20p13 chromosome 20 open reading frame 27 C20orf28 20pter-q11.23 chromosome 20 open reading frame 28 CENPB 20p13 centromere protein B, 80kDa CDC25B 20p13 cell division cycle 25B C20orf29 20p13 chromosome 20 open reading frame 29 KIAA1271 20p13 KIAA1271 protein PANK2 20p13 pantothenate kinase 2 (Hallervorden-Spatz syndrome) RNF24 20p13-p12.1 ring finger protein 24 LOC388783 20 similar to hypothetical protein RPL21P2 20p13 ribosomal protein L21 pseudogene 2 MGC34919 20p13 hypothetical protein MGC34919 SMOX 20p13 spermine oxidase ADRA1D 20p13 adrenergic, alpha-1D-, receptor
    RNA
    TRANSCRIPTS type messenger
    text its expression is driven by a TATA-less promoter
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 splicing 1712 - 279 - 2010 20603201
  • also called PANK2 short GFP; sPANK2
  • located in the cytoplasm only
  • non-functional cytosolic PANK2 isoform
  • 7 splicing 2280 48 570 . detected in cortical brain 2010 20603201
  • PANK2 long GFP; mPANK2
  • located in the mitochondria and nucleus
  • 7 splicing 1763 - 279 not expressed in mitochondria 2010 20603201
    non-functional cytosolic PANK2 isoform
    8 - 8549 - 279 - 2010 20603201
    7 - 7674 - 134 - 2010 20603201
    2 - 1506 - 331 - 2010 20603201
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrineparathyroid   highly
     thyroid   highly
    Lymphoid/Immunelymph node   highly
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney    
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period neonatal
    Text infantile basal ganglion
    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