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PRPH Gene

protein-coding   GIFtS: 63
GCID: GC12P049687

Peripherin


(Previous symbol: NEF4)
  See PRPH-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
peripherin1 2
NEF41 2 3
PRPH12 3
Neurofilament 4 (57kD)2
Neurofilament 43

External Ids:    HGNC: 94611   Entrez Gene: 56302   Ensembl: ENSG000001354067   OMIM: 1707105   UniProtKB: P412193   

Export aliases for PRPH gene to outside databases

Previous GC identifers: GC12M049560 GC12P049720 GC12P049405 GC12P047975 GC12P047973 GC12P046719


(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 PRPH Gene:
This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is
a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a
different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with
susceptibility to amyotrophic lateral sclerosis. (provided by RefSeq, Jul 2008)

GeneCards Summary for PRPH Gene:
PRPH (peripherin) is a protein-coding gene. Diseases associated with PRPH include macular dystrophy, patterned, and choriodal dystrophy, central areolar 2. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is LMNB1.

UniProtKB/Swiss-Prot: PERI_HUMAN, P41219
Function: Class-III neuronal intermediate filament protein

Gene Wiki entry for PRPH (Peripherin) 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_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PRPH gene promoter:
         Egr-3   c-Fos   AhR   AP-1   Pax-5   MyoD   CUTL1   E47   AREB6   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRPH promoter sequence
   Search Chromatin IP Primers for PRPH

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


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

Entrez Gene cytogenetic band: 12q12-q13   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q12-q13

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P049687:  view genomic region     (about GC identifiers)

Start:
49,687,035 bp from pter      End:
49,692,481 bp from pter
Size:
5,447 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: PERI_HUMAN, P41219 (See protein sequence)
Recommended Name: Peripherin  
Size: 470 amino acids; 53651 Da
Secondary accessions: Q8N577
Alternative splicing: 2 isoforms:  P41219-1   P41219-2   (No experimental confirmation available. Gene prediction based on similarity to orthologs)

Explore the universe of human proteins at neXtProt for PRPH: NX_P41219

Explore proteomics data for PRPH at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys288, Lys398
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_006253.2  
    ENSEMBL proteins: 
     ENSP00000257860   ENSP00000408897   ENSP00000437182  

    PRPH Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PRPH

     
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    antibodies-online proteins for PRPH (11 products) 

     
    antibodies-online peptides for PRPH

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    antibodies-online kits for PRPH (11 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:
    IFF3: Intermediate filaments type III

    5 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR027700 PRPH
     IPR001664 IF
     IPR002957 Keratin_I
     IPR006821 Intermed_filament_DNA-bd

    Graphical View of Domain Structure for InterPro Entry P41219

    ProtoNet protein and cluster: P41219

    1 Blocks protein domain: IPB001664 Intermediate filament protein

    UniProtKB/Swiss-Prot: PERI_HUMAN, P41219
    Similarity: Belongs to the intermediate filament family


    Find genes that share domains with PRPH           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PERI_HUMAN, P41219
    Function: Class-III neuronal intermediate filament protein

         Genatlas biochemistry entry for PRPH:
    peripherin,neuronal,intermediate filament associated protein (IFAP,type III)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with PRPH           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for PRPH:
     Decreased cilium length after   Decreased number of cells in m 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Prph):
     nervous system 

    Find genes that share phenotypes with PRPH           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PRPH

    miRNA
    Products:
        
    miRTarBase miRNAs that target PRPH:
    hsa-mir-124-3p (MIRT022594)

    Block miRNA regulation of human, mouse, rat PRPH using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PRPH:
    hsa-miR-3158-3p
    SwitchGear 3'UTR luciferase reporter plasmidPRPH 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PRPH
    Predesigned siRNA for gene silencing in human, mouse, rat PRPH

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPH


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol2
    nucleus2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament TAS1378416
    GO:0005883neurofilament IEA--
    GO:0030424axon ----
    GO:0042622photoreceptor outer segment membrane IEA--
    GO:0044299C-fiber IEA--

    Find genes that share ontologies with PRPH           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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    SuperPaths for PRPH About    
    See pathways by source

    SuperPathContained pathways About
    1Amyotrophic lateral sclerosis (ALS)
    Amyotrophic lateral sclerosis (ALS)0.63
    Amyotrophic lateral sclerosis (ALS)0.63
    2Cytoplasmic microtubules
    Cytoskeleton remodeling Neurofilaments0.32


    Find genes that share SuperPaths with PRPH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for PRPH
        Cytoskeleton remodeling Neurofilaments

    1 BioSystems Pathway for PRPH
        Amyotrophic lateral sclerosis (ALS)


    1 Kegg Pathway  (Kegg details for PRPH):
        Amyotrophic lateral sclerosis (ALS)

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

        GeneGlobe Interaction Network for PRPH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for PRPH (P412192, 3 ENSP000002578604) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KRT15P190122, 3, ENSP000002540434MINT-68372 I2D: score=5 STRING: ENSP00000254043
    VIMP086702, 3, ENSP000002242374MINT-8277065 I2D: score=2 STRING: ENSP00000224237
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    MAPK3P273613, ENSP000002630254I2D: score=1 STRING: ENSP00000263025
    PRPH2P239423, ENSP000002303814I2D: score=1 STRING: ENSP00000230381
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045104intermediate filament cytoskeleton organization IEA--

    Find genes that share ontologies with PRPH           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 PRPH (PERI)



    (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 PRPH gene: 
    NM_006262.3  

    Unigene Cluster for PRPH:

    Peripherin
    Hs.37044  [show with all ESTs]
    Unigene Representative Sequence: AK125587
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000551194 ENST00000257860(uc001rtu.3) ENST00000451891 ENST00000533401
    ENST00000537252 ENST00000532332 ENST00000530631
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PRPH using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PRPH:
    hsa-miR-3158-3p
    SwitchGear 3'UTR luciferase reporter plasmidPRPH 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PRPH
    Predesigned siRNA for gene silencing in human, mouse, rat PRPH
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    OriGene ORF clones in mouse, rat for PRPH
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    GenScript: all cDNA clones in your preferred vector: PRPH (NM_006262)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRPH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRPH
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PRPH
    OriGene qSTAR qPCR primer pairs in human, mouse for PRPH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PRPH
      QuantiTect SYBR Green Assays in human, mouse, rat PRPH
      QuantiFast Probe-based Assays in human, mouse, rat PRPH

    Additional mRNA sequence: 

    AK125587.1 BC032703.1 

    6 DOTS entries:

    DT.410048  DT.100778449  DT.100036479  DT.100778456  DT.100832904  DT.100679296 

    Selected AceView cDNA sequences (see all 111):

    NM_006262 BQ669826 BI963163 BQ722243 CR605251 CR624274 BU737271 AA427957 
    BC032703 CR598826 CR591176 BQ069706 CR605475 CR609048 BG818891 BI964812 
    BQ718983 CR620795 BQ898223 CR596536 CR624218 CR615736 AI125438 AA417001 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for PRPH

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


    PRPH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
     
     Neurons (Uncategorized)
             Peripheral sensory neuron-like cells
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     NULL (Uncategorized)
             Peripheral neuron-like cells
     
     Liver (Hepatobiliary System)
             Mature Mesothelial Cells Hepatic Mesenchyme
    PRPH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRPH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.37044
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPH

    (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 PRPH gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prph1 , 5 peripherin1, 5 89.61(n)1
    95.7(a)1
      15 (55.72 cM)5
    191321  NM_013639.21  NP_038667.21 
     990551745 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    48(a)
    many ↔ many
    22(944238-949102)
    lizard
    (Anolis carolinensis)
    Reptilia PRPH6
    peripherin
    80(a)
    1 ↔ 1
    GL343198.1(2468531-2479251)
    African clawed frog
    (Xenopus laevis)
    Amphibia plasticin-prov2 peripherin 75.24(n)    BC045209.1 
    zebrafish
    (Danio rerio)
    Actinopterygii plasticin2 plasticin 79.15(n)   30259  U89709.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PRPH gene
    LMNB12  VIM2  INA2  LMNA2  NEFM2  DES2  LMNB22  NEFH2  
    GFAP2  
    Selected SIMAP similar genes for PRPH using alignment to 3 protein entries:     PERI_HUMAN (see all proteins) (see all similar genes):
    VIM    KRTHB1    KRTHB6    DES    tmp_locus_29    DKFZp761K0922
    GFAP    NEFL    KRT79    LMNB1    KRT8    NEFM
    INA    KRT4    KRT5    KRT121P    LMNB2    KRT75

    Find genes that share paralogs with PRPH           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 PRPH (see all 151)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs740890101,2
    Cuntested149522005(+) CGAACG/CGTGAC 1 -- ut512Minor allele frequency- C:0.23WA 120
    rs574510171,2
    C,Funtested149522054(+) CCTCCG/AGGCCG 2 /Q /R mis14Minor allele frequency- A:0.01NA EA EU 4559
    rs584031421,2
    C,Funtested149522091(+) ACCTTC/TGGTCC 2 F syn14Minor allele frequency- T:0.02CSA EA NA EU 4645
    rs74883431,2
    C,F,Auntested149522642(+) CTCTTG/CCCTCC 1 -- int19Minor allele frequency- C:0.40NA WA CSA EA 369
    rs20707601,2
    C,F,A,Huntested149523382(+) GGCGGT/CTTCTG 1 -- int115Minor allele frequency- C:0.12EA NA WA CSA 2169
    rs626365201,2
    C,Funtested149523843(+) TCGCCG/ACGAAG 2 /T /A mis14Minor allele frequency- A:0.02CSA EA NA EU 5307
    rs2676075311,2
    Cuntested149523896(+) GAGCCA/GGGAGG 1 -- int10--------
    rs626365171,2
    C,Funtested149524271(+) CGGCTC/GGAGGA 2 L syn11Minor allele frequency- G:0.01EU 687
    rs731121431,2
    C,Funtested149524295(+) CTAAAA/GGAGGA 2 K syn18Minor allele frequency- G:0.23WA CSA NA EA EU 5061
    rs2001410111,2
    Cuntested149524432(+) CGGGGA/CAGGGC 1 -- int10--------

    HapMap Linkage Disequilibrium report for PRPH (49687035 - 49692481 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PRPH:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv826367CNV Gain20364138
    esv25113CNV Gain19812545

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

    (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: 170710   
    OMIM disorders: 105400  
    12 diseases for PRPH:    
    About MalaCards
    macular dystrophy, patterned    choriodal dystrophy, central areolar 2    macular dystrophy    retinitis pigmentosa, digenic
    retinitis pigmentosa 7    amyotrophic lateral sclerosis    vitelliform macular dystrophy    myxoid chondrosarcoma
    adult-onset vitelliform macular dystrophy    fundus albipunctatus    extraskeletal myxoid chondrosarcoma    lateral sclerosis


    Find genes that share disorders with PRPH           About GenesLikeMe

    Genetic Association Database (GAD): PRPH
    Human Genome Epidemiology (HuGE) Navigator: PRPH (9 documents)

    Export disorders for PRPH 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 PRPH gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with PRPH)
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    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. (PubMed id 15322088)1, 4 Gros-Louis F....Julien J.P. (J. Biol. Chem. 2004)
    3. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PubMed id 11835375)1, 4 Boerkoel C.F.... Lupski J.R. (Ann. Neurol. 2002)
    4. The structure of the human peripherin gene (PRPH) and identification of potential regulatory elements. (PubMed id 7806235)1, 2 Foley J.... Parysek L.M. (Genomics 1994)
    5. Chromosomal localisation of the mouse and human peripherin genes. (PubMed id 1378416)1, 3 Moncla A....Portier M.M. (Genet. Res. 1992)
    6. Identification of human protein interaction domains using an ORFeome-based yeast two-hybrid fragment library. (PubMed id 23718855)1 Waaijers S....Boxem M. (J. Proteome Res. 2013)
    7. Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin. (PubMed id 23179371)1 Cogli L....Bucci C. (Acta Neuropathol. 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    10. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)

    (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: 5630 HGNC: 9461 AceView: PRPH Ensembl:ENSG00000135406 euGenes: HUgn5630
    ECgene: PRPH Kegg: 5630 H-InvDB: PRPH

    (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 PRPH Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Peripherin

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

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



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