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PANK2 Gene

protein-coding   GIFtS: 66
GCID: GC20P003869

Pantothenate Kinase 2

(Previous name: neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz...)
(Previous symbols: C20orf48, NBIA1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Pantothenate Kinase 21 2     HARP2 5
C20orf481 2 3     PKAN2 5
NBIA11 2 5     Neurodegeneration With Brain Iron Accumulation 1 (Hallervorden-Spatz
Syndrome)1
Hallervorden-Spatz Syndrome1 2     HSS2
Pantothenic Acid Kinase 22 3     Pantothenate Kinase 2, Mitochondrial2
EC 2.7.1.333 8     hPanK23

External Ids:    HGNC: 158941   Entrez Gene: 800252   Ensembl: ENSG000001257797   OMIM: 6061575   UniProtKB: Q9BZ233   

Export aliases for PANK2 gene to outside databases

Previous GC identifers: GC20P003857 GC20P003864 GC20P003817


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PANK2 Gene:
This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to
be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A
(CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic
pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species.
Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration
(PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons,
results in multiple transcripts encoding different isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for PANK2 Gene:
PANK2 (pantothenate kinase 2) is a protein-coding gene. Diseases associated with PANK2 include classic pantothenate kinase-associated neurodegeneration, and harp syndrome. GO annotations related to this gene include pantothenate kinase activity. An important paralog of this gene is PANK3.

UniProtKB/Swiss-Prot: PANK2_HUMAN, Q9BZ23
Function: May be the master regulator of the CoA biosynthesis (By similarity)

Gene Wiki entry for PANK2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011387.9  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PANK2 gene promoter:
         C/EBPbeta   POU2F1a   c-Myb   RORalpha2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PANK2 promoter sequence
   Search Chromatin IP Primers for PANK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PANK2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

PANK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PANK2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P003869:  view genomic region     (about GC identifiers)

Start:
3,869,486 bp from pter      End:
3,907,605 bp from pter
Size:
38,120 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PANK2_HUMAN, Q9BZ23 (See protein sequence)
Recommended Name: Pantothenate kinase 2, mitochondrial precursor  
Size: 570 amino acids; 62681 Da
Subunit: Homodimer (By similarity)
Miscellaneous: The HSS syndrome has been proposed to be renamed because of the unethical activities of Julius
Hallervorden and Hugo Spatz during world war II
Sequence caution: Sequence=BAC05173.1; Type=Erroneous initiation;
Secondary accessions: B1AK33 B2Z3X0 D3DVZ0 Q5T7I2 Q5T7I4 Q7RTX5 Q8N7Q4 Q8TCR5 Q9BYW5 Q9HAF2
Alternative splicing, Alternative initiation: 4 isoforms:  Q9BZ23-1   Q9BZ23-2   Q9BZ23-3   Q9BZ23-4   (May be produced by alternative initiation at Leu-111 of isoform 1. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PANK2: NX_Q9BZ23

Explore proteomics data for PANK2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys250, Lys543
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PANK2 (Q9BZ23) (see all 6)
     FEEALEMA  LKSIRKYLTSN  FIQMGRDKNFS  TGIRDVHLELK 


    See PANK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_079236.3  NP_705902.2  NP_705904.1  

    ENSEMBL proteins: 
     ENSP00000417609   ENSP00000476745   ENSP00000313377   ENSP00000477229   ENSP00000477429  
    Reactome Protein details: Q9BZ23

    PANK2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004567 Type_II_PanK

    Graphical View of Domain Structure for InterPro Entry Q9BZ23

    ProtoNet protein and cluster: Q9BZ23

    2 Blocks protein domains:
    IPB004567 Eukaryotic pantothenate kinase
    IPB011602 Fumble


    UniProtKB/Swiss-Prot: PANK2_HUMAN, Q9BZ23
    Similarity: Belongs to the type II pantothenate kinase family


    PANK2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PANK2_HUMAN, Q9BZ23
    Function: May be the master regulator of the CoA biosynthesis (By similarity)
    Catalytic activity: ATP + (R)-pantothenate = ADP + (R)-4'-phosphopantothenate
    Enzyme regulation: Regulated by feedback inhibition by CoA and its thioesters

         Enzyme Number (IUBMB): EC 2.7.1.331 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004594pantothenate kinase activity IEA--
    GO:0005524ATP binding IEA--
         
    PANK2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PANK2:
     Increased circadian period len 

         14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pank2):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  liver/biliary system  mortality/aging  muscle 
     nervous system  renal/urinary system  reproductive system  vision/eye 

    PANK2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PANK2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PANK2
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    miRNA
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    miRTarBase miRNAs that target PANK2:
    hsa-mir-615-3p (MIRT039651), hsa-mir-23b-3p (MIRT046370), hsa-mir-497-5p (MIRT041189), hsa-mir-92a-3p (MIRT049757), hsa-mir-10a-5p (MIRT047610), hsa-mir-877-3p (MIRT036836)

    Block miRNA regulation of human, mouse, rat PANK2 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate PANK2:
    hsa-miR-377 hsa-miR-3202 hsa-miR-3120-3p hsa-miR-3190 hsa-miR-151-3p
    SwitchGear 3'UTR luciferase reporter plasmidPANK2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PANK2_HUMAN, Q9BZ23: Isoform 1: Mitochondrion
    PANK2_HUMAN, Q9BZ23: Isoform 2: Cytoplasm (Potential)
    PANK2_HUMAN, Q9BZ23: Isoform 3: Cytoplasm (Potential)
    PANK2_HUMAN, Q9BZ23: Isoform 4: Cytoplasm (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005758mitochondrial intermembrane space TAS--
    GO:0005829cytosol IEA--

    PANK2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PANK2 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    3Pantothenate and CoA biosynthesis
    Pantothenate and CoA biosynthesis
    4Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PANK2
        Coenzyme A biosynthesis


    2 Kegg Pathways  (Kegg details for PANK2):
        Pantothenate and CoA biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: PANK2_HUMAN, Q9BZ23
    Pathway: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5


    PANK2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PANK2
    Interactions:

        GeneGlobe Interaction Network for PANK2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for PANK2 (Q9BZ231, 2, 3 ENSP000003133774) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RASGRF2O148271, 3, ENSP000002650804EBI-1058434,EBI-1055500 I2D: score=2 STRING: ENSP00000265080
    QRICH2Q9H0J41, 3, ENSP000002627654EBI-1058434,EBI-1053637 I2D: score=2 STRING: ENSP00000262765
    DHX36Q9H2U11, 3, ENSP000004170784EBI-1058434,EBI-1047643 I2D: score=2 STRING: ENSP00000417078
    LXNQ9BS401, 3, ENSP000002642654EBI-1058434,EBI-1044504 I2D: score=2 STRING: ENSP00000264265
    VDAC1P217961, 3, ENSP000002653334EBI-1058434,EBI-354158 I2D: score=2 STRING: ENSP00000265333
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0007286spermatid development IEA--
    GO:0008219cell death IEA--
    GO:0009060aerobic respiration IEA--

    PANK2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PANK2

    9 HMDB Compounds for PANK2    About this table
    CompoundSynonyms CAS #PubMed Ids
    4-PhosphopantothenoylcysteinePantothenoylcysteine 4'-phosphate (see all 11)7196-09-0--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    D-4'-Phosphopantothenate(R)-4'-phosphopantothenate (see all 5)----
    D-Pantothenoyl-L-cysteineN-Pantothenoylcystein (see all 2)----
    IronArmco iron (see all 19)7439-89-6--
    Pantetheine(R)-Pantetheine (see all 5)496-65-1--
    Pantetheine 4'-phosphate4'-Phosphopantetheine (see all 8)2226-71-3--
    Pantothenic acid(+)-Pantothenate (see all 14)79-83-4--

    5 Novoseek inferred chemical compound relationships for PANK2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pantothenate 98.1 129 19602483 (5), 17429753 (4), 15659606 (3), 15944911 (3) (see all 63)
    iron 64.8 21 16962235 (3), 16775270 (3), 15105273 (2), 15659606 (1) (see all 11)
    cysteine 2.56 2 15105272 (1), 12382200 (1)
    atp 0 1 17242360 (1)
    lipid 0 1 15659606 (1)



    PANK2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PANK2 gene (6 alternative transcripts): 
    NM_024960.4  NM_153638.2  NM_153640.2  NM_153637.1  NM_153639.1  NM_153641.1  

    Unigene Cluster for PANK2:

    Pantothenate kinase 2
    Hs.516859  [show with all ESTs]
    Unigene Representative Sequence: NM_153638
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000497424(uc002wkb.3) ENST00000495692 ENST00000316562(uc010gbd.1 uc002wkc.3 uc002wkd.3 uc002wke.3)
    ENST00000336066(uc002wkf.3) ENST00000610179 ENST00000471830 ENST00000464452

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    SwitchGear 3'UTR luciferase reporter plasmidPANK2 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat PANK2
      QuantiFast Probe-based Assays in human, mouse, rat PANK2

    Additional mRNA sequence: 

    AF086501.1 AF494409.1 AK021791.1 AK097796.1 AK310190.1 BC008667.1 BC009421.1 BC065019.1 
    BC093633.1 BC101569.1 BC101571.1 BC107724.1 BC142976.1 

    19 DOTS entries:

    DT.100025459  DT.314175  DT.97768098  DT.312225  DT.70105489  DT.453872  DT.120834380  DT.95342931 
    DT.95342941  DT.120834429  DT.97814710  DT.120834351  DT.120834371  DT.120834343  DT.120834396  DT.120834441 
    DT.120834448  DT.40264370  DT.95332792 

    Selected AceView cDNA sequences (see all 244):

    AI581130 CR596823 AI378656 BC009421 AI129095 BE218572 AI091891 AI091094 
    AK097796 AA400688 NM_153638 AI420058 AA829342 CD674576 BM918021 BM817969 
    NM_153637 AI363339 CR618246 AI434698 BE467997 AI141607 AI079688 AI360937 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PANK2 (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d
    SP1:        -     -     -     -     -     -     -                 -     -                                                   
    SP2:                                -     -     -                 -     -                                                   
    SP3:                                -     -     -           -     -     -                                                   
    SP4:                                            -           -     -     -                                                   
    SP5:                                            -                 -     -                                                   


    ECgene alternative splicing isoforms for PANK2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PANK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCAGGCAGT
    PANK2 Expression
    About this image

    PANK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PANK2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516859

    UniProtKB/Swiss-Prot: PANK2_HUMAN, Q9BZ23
    Tissue specificity: Ubiquitous

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PANK2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pank21 , 5 pantothenate kinase 21, 5 89.16(n)1
    91.65(a)1
      2 (63.31 cM)5
    744501  NM_153501.21  NP_705721.21 
     1312624955 
    chicken
    (Gallus gallus)
    Aves PANK21 pantothenate kinase 2 77.97(n)
    85.01(a)
      422935  XM_420873.4  XP_420873.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein

    many ↔ many
    AAWZ02041686(279-4334)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pank21 pantothenate kinase 2 75.07(n)
    86.27(a)
      100487302  XM_002936369.2  XP_002936415.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pank21 pantothenate kinase 2 69.21(n)
    76.35(a)
      570866  NM_001080606.2  NP_001074075.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta fbl6
    fumble
    47(a)
    1 → many
    3L(20377529-20385013)
    worm
    (Caenorhabditis elegans)
    Secernentea pnk-46
    Protein PNK-4 (pnk-4) mRNA, complete cds
    12(a)
    1 → many
    X(5087840-5092511) WBGene00006862
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CAB16
    Pantothenate kinase (ATP:D-pantothenate 4'-phospho...
    32(a)
    1 → many
    IV(1498232-1499335) YDR531W


    ENSEMBL Gene Tree for PANK2 (if available)
    TreeFam Gene Tree for PANK2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PANK2 gene
    PANK32  PANK42  PANK12  
    3 SIMAP similar genes for PANK2 using alignment to 6 protein entries:     PANK2_HUMAN (see all proteins):
    PANK3    PANK1    PANK4

    PANK2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PANK2 (see all 1019)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs412794081,2,,4
    CNeurodegeneration with brain iron accumulation 1 (NBIA1)4 --3847080(+) GATCCC/TGTGAT 6 P L mis12Minor allele frequency- T:0.00NA 4
    VAR_0151684
    Neurodegeneration with brain iron accumulation 1 (NBIA1)4--see VAR_0151682 G R mis40--------
    VAR_0151694
    Neurodegeneration with brain iron accumulation 1 (NBIA1)4--see VAR_0151692 T M mis40--------
    VAR_0609464
    Neurodegeneration with brain iron accumulation 1 (NBIA1)4--see VAR_0609462 N D mis40--------
    VAR_0151654
    Neurodegeneration with brain iron accumulation 1 (NBIA1)4--see VAR_0151652 S N mis40--------
    VAR_0151584
    Neurodegeneration with brain iron accumulation 1 (NBIA1)4--see VAR_0151582 L V mis40--------
    VAR_0609344
    Neurodegeneration with brain iron accumulation 1 (NBIA1)4--see VAR_0609342 E G mis40--------
    VAR_0609474
    Neurodegeneration with brain iron accumulation 1 (NBIA1)4--see VAR_0609472 R W mis40--------
    VAR_0609424
    Neurodegeneration with brain iron accumulation 1 (NBIA1)4--see VAR_0609422 C Y mis40--------
    VAR_0151544
    Neurodegeneration with brain iron accumulation 1 (NBIA1)4--see VAR_0151542 G V mis40--------

    HapMap Linkage Disequilibrium report for PANK2 (3869486 - 3907605 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for PANK2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv776e199CNV Deletion23128226
    esv2722123CNV Deletion23290073
    esv2668086CNV Deletion23128226
    esv2674429CNV Deletion23128226
    nsv828676CNV Loss20364138
    nsv828673CNV Gain20364138

    Human Gene Mutation Database (HGMD): PANK2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PANK2
    DNA2.0 Custom Variant and Variant Library Synthesis for PANK2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606157   
    OMIM disorders: 234200  607236  
    UniProtKB/Swiss-Prot: PANK2_HUMAN, Q9BZ23
  • Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]: Autosomal recessive
    neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia.
    Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia,
    dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is
    clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in
    first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in
    second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms
    manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients
    with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have
    speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP)
    [MIM:607236]: Rare syndrome with many clinical similarities to PKAN. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for PANK2 (see all 27):    
    About MalaCards
    classic pantothenate kinase-associated neurodegeneration    harp syndrome    pantothenate kinase-associated neurodegeneration    atypical pantothenate kinase-associated neurodegeneration
    neurodegeneration with brain iron accumulation disorders    aceruloplasminemia    neuroacanthocytosis    speech disorder
    neuroaxonal dystrophy    acanthocytosis    pigmentary retinopathy    azoospermia
    friedreich ataxia    retinal degeneration    optic atrophy    tremor
    retinitis pigmentosa    retinitis    lateral sclerosis    amyotrophic lateral sclerosis

    5 diseases from the University of Copenhagen DISEASES database for PANK2:
    Hallervorden-Spatz syndrome     Neuroaxonal dystrophy     Aceruloplasminemia     Movement disease
    Neuroacanthocytosis

    PANK2 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for PANK2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hallervorden-spatz disease 98.8 60 12510040 (3), 15793782 (2), 18239249 (2), 15747360 (2) (see all 41)
    neurodegeneration 77 23 16962235 (3), 15659606 (2), 16758184 (2), 16775270 (2) (see all 13)
    retinitis pigmentosa 66.5 5 16962235 (2), 14631201 (1), 14638969 (1)
    parkinsonism 62.8 2 16962235 (1), 17569231 (1)
    neurodegenerative diseases 61.6 4 16962235 (1), 15105272 (1), 17242360 (1), 12382200 (1)
    azoospermia 55 3 17429753 (1), 15525657 (1)
    movement disorders 52 4 17429753 (2), 16962235 (1), 20006850 (1)
    retinal degeneration 30.9 2 15525657 (1)
    neurological disorders 13.7 1 17429753 (1)

    GeneTests: PANK2
    GeneReviews: PANK2
    Genetic Association Database (GAD): PANK2
    Human Genome Epidemiology (HuGE) Navigator: PANK2 (3 documents)

    Export disorders for PANK2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PANK2 gene, integrated from 10 sources (see all 115):
    (articles sorted by number of sources associating them with PANK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. (PubMed id 11479594)1, 2, 3, 9 Zhou B....Hayflick S.J. (Nat. Genet. 2001)
    2. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. (PubMed id 16437574)1, 4, 9 Hartig M.B....Meitinger T. (Ann. Neurol. 2006)
    3. Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease. (PubMed id 15843062)1, 4, 9 Klopstock T....HAPrtnagel K. (Neurosci. Lett. 2005)
    4. An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. (PubMed id 12554685)1, 2, 9 Hoertnagel K.... Meitinger T. (Hum. Mol. Genet. 2003)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. (PubMed id 12058097)1, 2 Ching K.H.L....Hayflick S.J. (Neurology 2002)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    9. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. (PubMed id 8944032)1, 3 Taylor T.D....Hayflick S.J. (Nat. Genet. 1996)
    10. Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine. (PubMed id 17242360)1, 9 Leonardi R....Zhang Y.M. (Proc. Natl. Acad. Sci. U.S.A. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80025 HGNC: 15894 AceView: PANK2 Ensembl:ENSG00000125779 euGenes: HUgn80025
    ECgene: PANK2 Kegg: 80025 H-InvDB: PANK2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PANK2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PANK2[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pank2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PANK2 gene:
    Search GeneIP for patents involving PANK2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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