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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRRT2 Gene

protein-coding   GIFtS: 49
GCID: GC16P029823

Proline-Rich Transmembrane Protein 2

  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)
About This Section

Aliases
Proline-Rich Transmembrane Protein 21 2     DYT102
Interferon Induced Transmembrane Protein Domain Containing 11 2     EKD12
Dispanin Subfamily B Member 32 3     ICCA2
DSPB32 3     IFITMD12
BFIC22     PKC2
BFIS22     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 benign familial infantile epilepsy, and intermediate uveitis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PRRT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, synapse (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7Z6L0

  • PRRT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRRT2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001243371.1  NP_001243372.1  NP_660282.2  

    ENSEMBL proteins: 
     ENSP00000454634   ENSP00000351608   ENSP00000456226   ENSP00000458291   ENSP00000300797  

    Human Recombinant Protein Products for PRRT2: 
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    Novus Biologicals PRRT2 Protein
    Novus Biologicals PRRT2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PRRT2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    PRRT2 for ontologies           About GeneDecksing



    PRRT2 Antibody Products: 
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    Assay Products for PRRT2: 
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    Cloud-Clone Corp. ELISAs for PRRT2 
    Cloud-Clone Corp. CLIAs for PRRT2


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

    1 InterPro protein domain:
     IPR007593 Interferon-induced_TM_protein

    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


    PRRT2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PRRT2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PRRT2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRRT2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRRT2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRRT2
    8/44 QIAGEN miScript miRNA 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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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of PRRT2 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRRT2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009607response to biotic stimulus IEA--

    PRRT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRRT2

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRRT2
    8/44 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PRRT2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRRT2
    Clone
    Products:
         
    OriGene clones in human, mouse for PRRT2 (see all 6)
    OriGene ORF clones in mouse, rat for PRRT2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PRRT2 (NM_145239)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRRT2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRRT2
    Sirion Biotech Customized lentivirus for stable overexpression of PRRT2 
                         Customized lentivirus expression plasmids for stable overexpression of PRRT2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PRRT2
    OriGene qSTAR qPCR primer pairs in human, mouse for PRRT2
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat PRRT2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRRT2
      QIAGEN 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 

    24/667 AceView cDNA sequences (see all 667):

    BQ690478 AU122322 BU520832 BU540662 AL553826 AI637978 CD370597 AL548893 
    AI003681 CR619090 BM709873 AU141973 BM461848 BU556997 CD676054 BQ928336 
    BU151678 BM971792 CB178631 BI772154 BU178227 BU630463 BQ056081 CD676801 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    PRRT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)
             Brain Pericytes   
     
     Gut Tube (Gastrointestinal Tract)
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...

    See PRRT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRRT2

    SOURCE GeneReport for Unigene cluster: Hs.655071
        SABiosciences Custom PCR Arrays for PRRT2
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRRT2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRRT2

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for PRRT2 gene from 3/8 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 84.02(n)1
    80(a)1
      7 (69.28 cM)5
    690171  NM_001102563.11  NP_001096033.11 
     1270167715 
    lizard
    (Anolis carolinensis)
    Reptilia PRRT26
    Uncharacterized protein
    38(a)
    1 ↔ 1
    GL343279.1(202846-205692)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003296121 proline-rich transmembrane protein 2-like 51.02(n)
    43.88(a)
      100329612  XM_002663904.1  XP_002663950.1 


    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)
    About This Section
    Paralogs for PRRT2 gene
    TMEM2332  TUSC52  

    PRRT2 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/64 SNPs in PRRT2 are shown (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--------
    VAR_0673214
    ----see VAR_0673212 P L mis40--------
    VAR_0670124
    ----see VAR_0670122 A P mis40--------
    VAR_0670104
    ----see VAR_0670102 P A mis40--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614386    OMIM disorders: --

    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

  • 19 diseases for PRRT2:    About MalaCards
    benign familial infantile epilepsy    intermediate uveitis    paroxysmal choreoathetosis    familial paroxysmal kinesigenic dyskinesia
    athetosis    infantile convulsions and paroxysmal choreoathetosis, familial    benign familial infantile seizures 2    paroxysmal dyskinesia
    episodic ataxia    tremor    hemiplegic migraine    essential tremor
    epilepsy syndrome    chorioretinitis    chorea    uveitis
    migraine    ataxia    mental retardation

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

    PRRT2 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for PRRT2 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with PRRT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. (PubMed id 22101681)1, 2, 3 Chen W.J.... Wu Z.Y. (2011)
    2. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. (PubMed id 22399141)1, 2 Ono S.... Kurotaki N. (2012)
    3. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. (PubMed id 22209761)1, 2 Liu Q.... Zhang X. (2012)
    4. PRRT2 Mutations are the major cause of benign familial infantile seizures. (PubMed id 22623405)1, 2 Schubert J....Weber Y.G. (2012)
    5. Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. (PubMed id 22131361)1, 2 Li J.... Liu Y. (2012)
    6. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. (PubMed id 22243967)1, 2 Heron S.E.... Dibbens L.M. (2012)
    7. Identification of PRRT2 as the causative gene of paro xysmal kinesigenic dyskinesias. (PubMed id 22120146)1, 2 Wang J.L....Tang B.S. (2011)
    8. 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. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. PRRT2 is mutated in familial and non-familial benign i nfantile seizures. (PubMed id 22902423)1 Specchio N....Vigevano F. (2013)

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

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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