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PRRT2 Gene

protein-coding   GIFtS: 51
GCID: GC16P029823

Proline-Rich Transmembrane Protein 2

(Previous name: infantile convulsions and paroxysmal choreoathetosis)
(Previous symbol: ICCA)
  See PRRT2-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
Proline-Rich Transmembrane Protein 21 2     BFIS22 5
ICCA1 2 5     DYT102 5
Infantile Convulsions And Paroxysmal Choreoathetosis1 2     EKD12 5
Interferon Induced Transmembrane Protein Domain Containing 11 2     PKC2 5
Dispanin Subfamily B Member 32 3     FICCA2
DSPB32 3     IFITMD12
BFIC22 5     

External Ids:    HGNC: 305001   Entrez Gene: 1124762   Ensembl: ENSG000001673717   OMIM: 6143865   UniProtKB: Q7Z6L03   

Export aliases for PRRT2 gene to outside databases

Previous GC identifers: GC16P029732 GC16P029733 GC16P027484


(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 PRRT2 Gene:
This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice
suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations
in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Jan 2012)

GeneCards Summary for PRRT2 Gene:
PRRT2 (proline-rich transmembrane protein 2) is a protein-coding gene. Diseases associated with PRRT2 include paroxysmal choreoathetosis, and familial paroxysmal kinesigenic dyskinesia. An important paralog of this gene is TMEM233.

Gene Wiki entry for PRRT2 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_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PRRT2 gene promoter:
         PPAR-gamma1   p53   AP-1   ATF-2   c-Myb   c-Jun   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PRRT2 promoter sequence
   Search Chromatin IP Primers for PRRT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PRRT2


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

PRRT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRRT2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P029823:  view genomic region     (about GC identifiers)

Start:
29,823,177 bp from pter      End:
29,827,202 bp from pter
Size:
4,026 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PRRT2_HUMAN, Q7Z6L0 (See protein sequence)
Recommended Name: Proline-rich transmembrane protein 2  
Size: 340 amino acids; 34945 Da
Subunit: Component of the outer core of AMPAR complex. AMPAR complex consists of an inner core made of 4
pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a
twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2,
CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is
complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the
interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2,
CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more
peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating
and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing (By
similarity)
Secondary accessions: A8K8M8 Q8N2N8 Q8NAQ7 Q8ND36 Q96FA8
Alternative splicing: 3 isoforms:  Q7Z6L0-1   Q7Z6L0-2   Q7Z6L0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PRRT2: NX_Q7Z6L0

Explore proteomics data for PRRT2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn53
  • Modification sites at PhosphoSitePlus

  • See PRRT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001243371.1  NP_001243372.1  NP_660282.2  

    ENSEMBL proteins: 
     ENSP00000454634   ENSP00000351608   ENSP00000456226   ENSP00000458291   ENSP00000300797  

    PRRT2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PRRT2

     
    Search eBioscience for Proteins for PRRT2 

     
    antibodies-online proteins for PRRT2 (2 products) 

     
    antibodies-online peptides for PRRT2

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    PRRT2 Assay Products:

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    antibodies-online kits for PRRT2 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PRRT: Proline-rich transmembrane proteins

    1 InterPro protein domain:
     IPR007593 CD225/Dispanin_fam

    Graphical View of Domain Structure for InterPro Entry Q7Z6L0

    ProtoNet protein and cluster: Q7Z6L0

    1 Blocks protein domain: IPB007593 Interferon-induced transmembrane protein

    UniProtKB/Swiss-Prot: PRRT2_HUMAN, Q7Z6L0
    Similarity: Belongs to the CD225/Dispanin family


    Find genes that share domains with PRRT2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PRRT2

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat PRRT2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PRRT2 (see all 44):
    hsa-miR-302d hsa-miR-520e hsa-miR-3607-3p hsa-miR-30d hsa-miR-9 hsa-miR-372 hsa-miR-30a hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidPRRT2 3' UTR sequence
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    Predesigned siRNA for gene silencing in human, mouse, rat PRRT2

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRRT2

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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
    PRRT2_HUMAN, Q7Z6L0: Cell membrane; Multi-pass membrane protein. Cell junction, synapse (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus2
    golgi apparatus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--
    GO:0030054cell junction IEA--
    GO:0045202synapse IEA--

    Find genes that share ontologies with PRRT2           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 PRRT2
    Interactions:

        Search GeneGlobe Interaction Network for PRRT2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for PRRT2 (Q7Z6L02, 3 ENSP000003516084) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNAP25P608802, 3, ENSP000002549764MINT-63925 I2D: score=5 STRING: ENSP00000254976
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009607response to biotic stimulus IEA--
    GO:0050884neuromuscular process controlling posture IMP--

    Find genes that share ontologies with PRRT2           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 PRRT2



    (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 PRRT2 gene (3 alternative transcripts): 
    NM_001256442.1  NM_001256443.1  NM_145239.2  

    Unigene Cluster for PRRT2:

    Proline-rich transmembrane protein 2
    Hs.655071  [show with all ESTs]
    Unigene Representative Sequence: NM_001256443
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000562148 ENST00000358758(uc002due.4) ENST00000567659 ENST00000572820
    ENST00000300797(uc002dud.2 uc002duf.1) ENST00000567551
    miRNA
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    Block miRNA regulation of human, mouse, rat PRRT2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PRRT2 (see all 44):
    hsa-miR-302d hsa-miR-520e hsa-miR-3607-3p hsa-miR-30d hsa-miR-9 hsa-miR-372 hsa-miR-30a hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidPRRT2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: PRRT2 (NM_145239)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRRT2
    Primer
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    OriGene qPCR primer pairs and template standards for PRRT2
    OriGene qSTAR qPCR primer pairs in human, mouse for PRRT2
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat PRRT2
      QuantiTect SYBR Green Assays in human, mouse, rat PRRT2
      QuantiFast Probe-based Assays in human, mouse, rat PRRT2

    Additional mRNA sequence: 

    AK092265.1 AK098379.1 AK225785.1 AK292393.1 AL834185.1 BC011405.1 BC053594.1 

    10 DOTS entries:

    DT.102841995  DT.95075665  DT.91653687  DT.448372  DT.100023186  DT.100722489  DT.95273483  DT.120696635 
    DT.100802159  DT.75149716 

    Selected AceView cDNA sequences (see all 667):

    BU151678 T40327 BM770028 BM726745 BQ272525 BM811474 BQ928336 BU520832 
    AL552500 BE408437 AI251822 CD676054 AI671155 BM823148 BU540662 AA779046 
    F26897 BM461848 BF725187 CB178631 CN482596 BU178227 BQ056081 CD676801 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PRRT2 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
    SP1:                                -                 -                                         -               
    SP2:                                -                                                           -               
    SP3:                                -                                                                           
    SP4:                                -                             -     -                                       
    SP5:                                -           -                                                               


    ECgene alternative splicing isoforms for PRRT2

    (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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    PRRT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCCGGAACA
    PRRT2 Expression
    About this image

    PRRT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRRT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655071
        Custom PCR Arrays for PRRT2
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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 chordates.

    Orthologs for PRRT2 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prrt21 , 5 proline-rich transmembrane protein 21, 5 82.69(n)1
    78.64(a)1
      7 (69.28 cM)5
    690171  NM_001102563.11  NP_001096033.11 
     1270167715 
    lizard
    (Anolis carolinensis)
    Reptilia PRRT26
    proline-rich transmembrane protein 2
    43(a)
    1 ↔ 1
    GL343279.1(202846-205692)
    zebrafish
    (Danio rerio)
    Actinopterygii PRRT26
    proline-rich transmembrane protein 2
    35(a)
    1 ↔ 1
    12(5758856-5776236) ENSDARG00000089367


    ENSEMBL Gene Tree for PRRT2 (if available)
    TreeFam Gene Tree for PRRT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PRRT2 gene
    TMEM2332  TUSC52  

    Find genes that share paralogs with PRRT2           About GenesLikeMe



    (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 PRRT2 (see all 64)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0673274
    Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA)4--see VAR_0673272 S N mis40--------
    VAR_0673264
    Episodic kinesigenic dyskinesia 1 (EKD1)4--see VAR_0673262 R C mis40--------
    VAR_0673224
    Episodic kinesigenic dyskinesia 1 (EKD1)4--see VAR_0673222 R W mis40--------
    VAR_0684264
    Seizures, benign familial infantile 2 (BFIS2)4--see VAR_0684262 G E mis40--------
    VAR_0673254
    Episodic kinesigenic dyskinesia 1 (EKD1)4--see VAR_0673252 G R mis40--------
    VAR_0673244
    Episodic kinesigenic dyskinesia 1 (EKD1)4--see VAR_0673242 A T mis40--------
    VAR_0673234
    Episodic kinesigenic dyskinesia 1 (EKD1)4--see VAR_0673232 W R mis40--------
    rs356257481,2
    C,F--30722539(-) CAGAAG/ACAGGA 6 /C syn14Minor allele frequency- A:0.00NA 4630
    rs2018879201,2
    --30722596(+) GTGAGA/CCCCAT 4 R S int1 mis10--------
    rs1432909011,2
    --30722658(+) ATAGAA/GCCTCT 3 -- int1 ut310--------

    HapMap Linkage Disequilibrium report for PRRT2 (29823177 - 29827202 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PRRT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv2667n71CNV Loss21882294
    nsv833186CNV Loss17160897
    nsv827611CNV Gain20364138
    nsv827610CNV Gain20364138

    Human Gene Mutation Database (HGMD): PRRT2
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing PRRT2
    DNA2.0 Custom Variant and Variant Library Synthesis for PRRT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614386   
    OMIM disorders: 128200  605751  602066  
    UniProtKB/Swiss-Prot: PRRT2_HUMAN, Q7Z6L0
  • Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]: An autosomal dominant neurologic condition
    characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary
    movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures,
    chorea, or athetosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Disease-causing mutations that produce truncation of the C-terminus of the protein alter subcellular location,
    from plasma membrane to cytosplasm (PubMed:22101681)
  • Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM:602066]: A syndrome
    characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia.
    Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first
    year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements
    characterized by attacks that occur spontaneously or are induced by a variety of stimuli. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Seizures, benign familial infantile 2 (BFIS2) [MIM:605751]: An autosomal dominant disorder in which
    afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 15 diseases for PRRT2:    
    About MalaCards
    paroxysmal choreoathetosis    familial paroxysmal kinesigenic dyskinesia    episodic kinesigenic dyskinesia 1    benign familial infantile epilepsy
    migraine with aura    glut1 deficiency syndrome 2    paroxysmal dyskinesia    movement disease
    familial hemiplegic migraine type 1    familial paroxysmal nonkinesigenic dyskinesia    infantile convulsions and paroxysmal choreoathetosis, familial    benign familial infantile seizures 2
    episodic ataxia    hemiplegic migraine    migraine

    3 diseases from the University of Copenhagen DISEASES database for PRRT2:
    Epilepsy syndrome     Migraine     Movement disease

    Find genes that share disorders with PRRT2           About GenesLikeMe


    Export disorders for PRRT2 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 PRRT2 gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with PRRT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. (PubMed id 22243967)1, 2, 3 Heron S.E.... Dibbens L.M. (Am. J. Hum. Genet. 2012)
    2. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. (PubMed id 22101681)1, 2, 3 Chen W.J.... Wu Z.Y. (Nat. Genet. 2011)
    3. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. (PubMed id 22399141)1, 2 Ono S.... Kurotaki N. (J. Hum. Genet. 2012)
    4. The dispanins: a novel gene family of ancient origin that contains 14 human members. (PubMed id 22363774)1, 2 Sallman Almen M.... Schioth H.B. (PLoS ONE 2012)
    5. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. (PubMed id 22209761)1, 2 Liu Q.... Zhang X. (J. Med. Genet. 2012)
    6. PRRT2 Mutations are the major cause of benign familial infantile seizures. (PubMed id 22623405)1, 2 Schubert J....Weber Y.G. (Hum. Mutat. 2012)
    7. Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. (PubMed id 22131361)1, 2 Li J.... Liu Y. (J. Med. Genet. 2012)
    8. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. (PubMed id 22120146)1, 2 Wang J.L.... Tang B.S. (Brain 2011)
    9. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 112476 HGNC: 30500 AceView: MVPandMGC4606andLOC112476 Ensembl:ENSG00000167371 euGenes: HUgn112476
    ECgene: PRRT2 H-InvDB: PRRT2

    (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 PRRT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PRRT2 gene:
    Search GeneIP for patents involving PRRT2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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