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PNKD Gene

protein-coding   GIFtS: 58
GCID: GC02P219135

Paroxysmal Nonkinesigenic Dyskinesia

(Previous name: paroxysmal nonkinesiogenic dyskinesia)
  See PNKD-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
Paroxysmal Nonkinesigenic Dyskinesia1 2     KIPP11842 5
Myofibrillogenesis Regulator 11 2 3     PDC2 5
MR12 3 5     Paroxysmal Nonkinesiogenic Dyskinesia1
TAHCCP22 3 5     PKND12
Trans-Activated By Hepatitis C Virus Core Protein 22 3     Brain Protein 172
MR-12 3     Probable Hydrolase PNKD2
BRP172 5     EC 3.-.-.-3
DYT82 5     KIAA11843
FPD12 5     Paroxysmal Nonkinesiogenic Dyskinesia Protein3

External Ids:    HGNC: 91531   Entrez Gene: 259532   Ensembl: ENSG000001278387   OMIM: 6090235   UniProtKB: Q8N4903   

Export aliases for PNKD gene to outside databases

Previous GC identifers: GC02U990078 GC02P218843 GC02P210988


(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 PNKD Gene:
This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been
associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Mar 2010)

GeneCards Summary for PNKD Gene:
PNKD (paroxysmal nonkinesigenic dyskinesia) is a protein-coding gene. Diseases associated with PNKD include familial paroxysmal nonkinesigenic dyskinesia, and dystonia 8. GO annotations related to this gene include hydroxyacylglutathione hydrolase activity. An important paralog of this gene is ETHE1.

UniProtKB/Swiss-Prot: PNKD_HUMAN, Q8N490
Function: Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via
activation of the NF-kappa-B signaling pathway (By similarity)

Gene Wiki entry for PNKD 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 at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the PNKD gene promoter:
         NF-1/L   NF-1   Elk-1   Pax-5   MyoD   NF-kappaB   AREB6   c-Myb   NF-kappaB1   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P219135:  view genomic region     (about GC identifiers)

Start:
219,135,115 bp from pter      End:
219,211,516 bp from pter
Size:
76,402 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: PNKD_HUMAN, Q8N490 (See protein sequence)
Recommended Name: Probable hydrolase PNKD  
Size: 385 amino acids; 42876 Da
Subunit: Isoform 2 interacts with the sarcomeric proteins, MRLC2, MYOM1 and ENO3
Secondary accessions: A8K1F2 Q96A48 Q9BU26 Q9NSX4 Q9ULN6 Q9Y4T1
Alternative splicing: 4 isoforms:  Q8N490-1   Q8N490-2   Q8N490-3   Q8N490-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PNKD: NX_Q8N490

Explore proteomics data for PNKD at MOPED

Post-translational modifications: 

  • Isoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PNKD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001070867.1  NP_056303.3  NP_072094.1  

    ENSEMBL proteins: 
     ENSP00000248451   ENSP00000273077   ENSP00000258362   ENSP00000414400  

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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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    2 InterPro protein domains:
     IPR001279 Beta-lactamas-like
     IPR017782 Hydroxyacylglutathione_Hdrlase

    Graphical View of Domain Structure for InterPro Entry Q8N490

    ProtoNet protein and cluster: Q8N490

    UniProtKB/Swiss-Prot: PNKD_HUMAN, Q8N490
    Similarity: Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family


    Find genes that share domains with PNKD           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PNKD_HUMAN, Q8N490
    Function: Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via
    activation of the NF-kappa-B signaling pathway (By similarity)
    Induction: By Hepatitis C virus core protein

         Enzyme Number (IUBMB): EC 3.-.-.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004416hydroxyacylglutathione hydrolase activity IEA--
    GO:0008270zinc ion binding IEA--
    GO:0016787hydrolase activity ----
         
    Find genes that share ontologies with PNKD           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PNKD:
     Increased G1 DNA content 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pnkd):
     behavior/neurological  homeostasis/metabolism  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with PNKD           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pnkdtm1Ljp for PNKD

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PNKD
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    miRTarBase miRNAs that target PNKD:
    hsa-mir-30c-5p (MIRT047847)

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    Selected qRT-PCR Assays for microRNAs that regulate PNKD (see all 29):
    hsa-miR-30c hsa-let-7d hsa-miR-137 hsa-miR-24-1* hsa-miR-938 hsa-miR-30d hsa-let-7c hsa-miR-24-2*
    SwitchGear 3'UTR luciferase reporter plasmidPNKD 3' UTR sequence
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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
    PNKD_HUMAN, Q8N490: Isoform 1: Membrane; Peripheral membrane protein
    PNKD_HUMAN, Q8N490: Isoform 2: Cytoplasm. Nucleus
    PNKD_HUMAN, Q8N490: Isoform 3: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    peroxisome2
    cytosol1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005739mitochondrion IDA--
    GO:0016020membrane IDA--

    Find genes that share ontologies with PNKD           About GenesLikeMe


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

        Search GeneGlobe Interaction Network for PNKD

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

    Selected Interacting proteins for PNKD (Q8N4902, 3 ENSP000002730774) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAGEA11P433642, 3, ENSP000003473584MINT-66830 I2D: score=5 STRING: ENSP00000347358
    MYL12BO149503, ENSP000002375004I2D: score=1 STRING: ENSP00000237500
    BECN1Q144573I2D: score=1 
    ENO3ENSP000003241054STRING: ENSP00000324105
    LEO1ENSP000002996014STRING: ENSP00000299601
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006750glutathione biosynthetic process IEA--

    Find genes that share ontologies with PNKD           About GenesLikeMe



    (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 PNKD

    5 Novoseek inferred chemical compound relationships for PNKD gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2-oxo acid 83.9 1 7548757 (1)
    alpha-ketoglutarate 63.2 1 2106552 (1)
    caffeine 53.3 1 15262732 (1)
    pyruvate 52 4 2106552 (2), 7548757 (1), 19638108 (1)
    glucose 0 3 19364451 (1), 19348709 (1)



    Find genes that share compounds with PNKD           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PNKD gene (3 alternative transcripts): 
    NM_001077399.2  NM_015488.4  NM_022572.4  

    Unigene Cluster for PNKD:

    Paroxysmal nonkinesigenic dyskinesia
    Hs.98475  [show with all ESTs]
    Unigene Representative Sequence: NM_015488
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000248451(uc002vhm.2) ENST00000273077(uc002vhn.3) ENST00000469689
    ENST00000472650 ENST00000494954 ENST00000258362(uc002vhq.3) ENST00000436005
    ENST00000483797
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    hsa-miR-30c hsa-let-7d hsa-miR-137 hsa-miR-24-1* hsa-miR-938 hsa-miR-30d hsa-let-7c hsa-miR-24-2*
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB033010.1 AF318057.1 AF417001.1 AK289867.1 AK309308.1 AL080092.1 AY358680.1 AY358753.1 
    BC002937.2 BC007543.1 BC021118.1 BC036457.2 

    15 DOTS entries:

    DT.451737  DT.120939863  DT.100023527  DT.100684652  DT.218027  DT.92431573  DT.100817874  DT.100813708 
    DT.120939986  DT.75147981  DT.120939881  DT.92431571  DT.40123253  DT.95194022  DT.97840897 

    Selected AceView cDNA sequences (see all 302):

    AW474476 BF515641 AI089850 AA903674 CA306949 AI936327 AI214595 F37025 
    BE857492 BI753336 CA432245 AW473924 AY358753 BQ028777 NM_022572 AL137675 
    AI187168 BQ073803 BM697073 AI150393 AW050670 BU616421 BX111034 AI879443 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PNKD    About this scheme

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


    ECgene alternative splicing isoforms for PNKD

    (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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    PNKD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGCCCAGGC
    PNKD Expression
    About this image


    PNKD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Ovary (Reproductive System)
             Oviduct
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
    PNKD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PNKD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.98475

    UniProtKB/Swiss-Prot: PNKD_HUMAN, Q8N490
    Tissue specificity: Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest
    expression in skeletal muscle and detected in myocardial myofibrils. Variant Val-7 and Val-9 are detected in the
    brain only

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    In Situ
    Assay Products:
     

     
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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 PNKD gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pnkd1 , 5 paroxysmal nonkinesiogenic dyskinesia1, 5 90.56(n)1
    96.1(a)1
      1 (38.53 cM)5
    566951  NM_001039509.11  NP_001034598.11 
     742849305 
    chicken
    (Gallus gallus)
    Aves PNKD1 paroxysmal nonkinesigenic dyskinesia 68.52(n)
    62.62(a)
      426214  XM_004942880.1  XP_004942937.1 
    lizard
    (Anolis carolinensis)
    Reptilia PNKD6
    paroxysmal nonkinesigenic dyskinesia
    57(a)
    1 ↔ 1
    1(88711690-88760810)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.156562 Xenopus laevis transcribed sequence with moderate similarity more 76.34(n)    BQ736660.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pnkd1 paroxysmal nonkinesigenic dyskinesia 62.13(n)
    61.08(a)
      497562  NM_001256210.1  NP_001243139.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y17G7B.36
    Protein Y17G7B.3 (Y17G7B.3) mRNA, complete cds
    35(a)
    many ↔ many
    II(11989024-11992823) WBGene00012459
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GLO46
    GLO26
    Mitochondrial glyoxalase II, catalyzes the hydroly...
    Cytoplasmic glyoxalase II, catalyzes the hydrolysi...
    29(a)
    28(a)
    many ↔ many
    many ↔ many
    XV(407064-407921) YOR040W
    IV(1009010-1009834) YDR272W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PNKD gene
    ETHE12  HAGHL2  HAGH2  
    2 SIMAP similar genes for PNKD using alignment to 2 protein entries:     PNKD_HUMAN (see all proteins):
    HAGH    HAGHL

    Find genes that share paralogs with PNKD           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PNKD
    PGOHUM00000241548


    (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 PNKD (see all 1791)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0348454
    Dystonia 8 (DYT8)4--see VAR_0348452 A V mis40--------
    VAR_0348444
    Dystonia 8 (DYT8)4--see VAR_0348442 A V mis40--------
    rs1214345131,2
    Cpathogenic1218519825(+) ACAAGG/CCTTCT 4 /P /A mis11Minor allele frequency- C:0.00NA 4550
    rs1437214431,2
    --218516820(+) ACAATC/TTCAGC 2 -- us2k10--------
    rs126126751,2
    C,F,A,H--218516829(+) gctcaG/Atgcaa 2 -- us2k16Minor allele frequency- A:0.31NA CSA 13
    rs1927412181,2
    --218516955(+) TTTCAC/TCATGT 2 -- us2k10--------
    rs101931071,2
    C--218516984(+) actccT/Cgacct 2 -- us2k1 tfbs34Minor allele frequency- C:0.00NA CSA 7
    rs1507335951,2
    C--218517110(+) ATAAC-/TTTTTT 2 -- us2k10--------
    rs1834954181,2
    --218517228(+) CCTGCC/TTCAAC 2 -- us2k10--------
    rs1881557181,2
    C--218517271(+) ACCACA/GCCCAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for PNKD (219135115 - 219211516 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PNKD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv519829CNV Loss19592680
    nsv875854CNV Gain21882294

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

    (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: 609023   
    OMIM disorders: 118800  
    UniProtKB/Swiss-Prot: PNKD_HUMAN, Q8N490
  • Dystonia 8 (DYT8) [MIM:118800]: A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by
    the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is
    characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks
    generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread
    throughout the body, including the face. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 8 diseases for PNKD:    
    About MalaCards
    familial paroxysmal nonkinesigenic dyskinesia    dystonia 8    hepatitis c    benign epilepsy with centrotemporal spikes
    hepatitis    paroxysmal dyskinesia    hepatitis c virus    movement disease

    4 diseases from the University of Copenhagen DISEASES database for PNKD:
    Movement disease     Benign epilepsy with centrotemporal spikes     Familial dystonia     Episodic ataxia

    Find genes that share disorders with PNKD           About GenesLikeMe

    1 Novoseek inferred disease relationship for PNKD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    biliary cirrhosis primary 65.6 1 19638108 (1)

    GeneTests: PNKD
    GeneReviews: PNKD
    Genetic Association Database (GAD): PNKD
    Human Genome Epidemiology (HuGE) Navigator: PNKD (2 documents)

    Export disorders for PNKD 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 PNKD gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with PNKD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. (PubMed id 16632198)1, 2, 9 Hempelmann A.... Sander T. (Neurosci. Lett. 2006)
    2. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. (PubMed id 15824259)1, 2, 9 Chen D.-H.... Raskind W.H. (Arch. Neurol. 2005)
    3. Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. (PubMed id 16972263)1, 2, 9 Stefanova E.... Kostic V.S. (Mov. Disord. 2006)
    4. 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)
    5. Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle. (PubMed id 15188056)1, 2 Li T.-B....Gong L.-M. (Acta Biochim. Biophys. Sin. 2004)
    6. Transactivating effect of hepatitis C virus core protein: a suppression subtractive hybridization study. (PubMed id 15188498)1, 2 Liu M....Yang Q. (World J. Gastroenterol. 2004)
    7. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. (PubMed id 15496428)1, 2 Lee H.-Y.... Ptacek L.J. (Hum. Mol. Genet. 2004)
    8. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    9. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (DNA Res. 1999)
    10. Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. (PubMed id 8659518)1, 3 Fink J.K....Leppert M. (Am. J. Hum. Genet. 1996)

    (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: 25953 HGNC: 9153 AceView: MR-1 Ensembl:ENSG00000127838 euGenes: HUgn25953
    ECgene: PNKD H-InvDB: PNKD

    (According to HUGE)
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    HUGE: KIAA1184

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PNKD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PNKD[genesymbol]

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

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



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