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

PRPH Gene

protein-coding   GIFtS: 63
GCID: GC12P049687

peripherin


(Previous symbol: NEF4)
 Explore 26 diseases affiliated with
PRPH via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PRPH    

Aliases
for PRPH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Peripherin1
NEF41 2 3
PRPH11 2 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


Summaries
for PRPH gene

(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 PRPH:
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)

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

Gene Wiki entry for PRPH (Peripherin)


Genomic Views
for PRPH 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences 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 plasmid: PRPH promoter sequence
   Search SABiosciences Chromatin IP Primers for PRPH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PRPH gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P41219

    • PRPH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
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    Novus Biologicals PRPH Proteins
    Novus Biologicals PRPH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PRPH

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament TAS1378416
    GO:0005883neurofilament IEA--
    GO:0030424axon ----
    GO:0042622photoreceptor outer segment membrane IEA--
    GO:0043025neuronal cell body ----


    PRPH for ontologies           About GeneDecksing



    PRPH Antibody Products: 
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    Uscn ELISAs and CLIAs for PRPH

    Protein Domains /
    Families
    for PRPH gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PRPH for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR002957 Keratin_I
     IPR006821 Intermed_filament_DNA-bd
     IPR016044 F

    Graphical View of Domain Structure for InterPro Entry P41219

    ProtoNet protein and cluster: P41219

    1 Blocks protein family: IPB001664 Intermediate filament protein

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


    Function
    for PRPH gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRPH
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PRPH:
    hsa-miR-3158-3p
    SwitchGear 3'UTR luciferase reporter plasmid: PRPH 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PRPH (see all 7)
    OriGene shRNA RFP: PRPH
    OriGene siRNA: PRPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRPH

    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for PRPH

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding ----


    PRPH for ontologies           About GeneDecksing


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

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

    PRPH for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PRPH gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytoskeleton remodeling Neurofilaments
    		Cytoskeleton remodeling Neurofilaments1.00
    		Cytoskeleton remodeling_Neurofilaments0.91
    2Pathogenesis of ALS
    		Amyotrophic lateral sclerosis (ALS)0.30

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for PRPH
        Cytoskeleton remodeling Neurofilaments


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


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


    PRPH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRPH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/47 Interacting proteins for PRPH (P412192, 3 ENSP000002578604) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    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
    PRPH2P239423, ENSP000002303814I2D: score=1 STRING: ENSP00000230381
    LMNB1P207003, ENSP000002613664I2D: score=2 STRING: ENSP00000261366
    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:0045104intermediate filament cytoskeleton organization IEA--


    PRPH for ontologies           About GeneDecksing



    Drugs & Compounds
    for PRPH gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 PRPH
    Search CenterWatch for drugs/clinical trials and news about PRPH / PERI 

    Transcripts
    for PRPH gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRPH
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PRPH:
    hsa-miR-3158-3p
    SwitchGear 3'UTR luciferase reporter plasmid: PRPH 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PRPH (see all 7)
    OriGene shRNA RFP: PRPH
    OriGene siRNA: PRPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRPH
    Clone
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    GenScript: all cDNA clones in your preferred vector: PRPH (NM_006262)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRPH 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRPH
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRPH

    Additional cDNA sequence: 

    AK125587.1 BC032703.1 

    6 DOTS entries:

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

    24/111 AceView cDNA sequences (see all 111):

    BQ898223 BQ720548 NM_006262 BI963163 CR624274 AI125438 CR591176 CR620795 
    BC032703 BQ069706 AA417001 CR615736 CR610243 CR609048 CR624218 CR598826 
    BG818891 BE677314 BQ722243 BU737271 BQ669826 BX282027 CR596536 CR605251 

    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

    Expression
    for PRPH gene

    (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

    PRPH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCCGATAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PRPH expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Peripheral neuron-like cells (Derivation of neural...)
    Peripheral sensory neuron-like cells (Generation of neuros...)

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

    SOURCE GeneReport for Unigene cluster: Hs.37044
        SABiosciences Custom PCR Arrays for PRPH
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPH

    Orthologs
    for PRPH gene

    (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 animals.

    Orthologs for PRPH gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia --
    PRPH6
    		 --
    79(a)
    		 possible ortholog
    1 ↔ 1
    		 AAWZ02039762(4434-6932)
    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 
    worm
    (Caenorhabditis elegans)    		 Secernentea ifp-16
    ifc-26
    (see all 12)    		 Intermediate filament protein ifc-2
    (see all 12)    		 8(a)
    6(a)
    (see all 12)    		 possible ortholog
    possible ortholog
    (see all 12)    		 X(9675786-9680111)
    X(642160-654902)


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

    Paralogs
    for PRPH gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRPH gene
    LMNB12  SYNM2  VIM2  INA2  LMNA2  NES2  DES2  NEFM2  
    LMNB22  NEFH2  GFAP2  
    18/48 SIMAP similar genes for PRPH using alignment to 3 protein entries:     PERI_HUMAN (see all proteins) (see all similar genes):
    DES    VIM    KRTHB1    KRTHB6    tmp_locus_29    DKFZp761K0922
    INA    KRT79    LMNB1    GFAP    KRT4    KRT5
    LMNB2    KRT75    KRT6A    KRT6B    KRT6C    KRT8

    PRPH for paralogs           About GeneDecksing



    Genomic Variants
    for PRPH gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/91 NCBI SNPs in PRPH are shown (see all 91)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs740890101,2
    		C,untested49688960(+) CGAACG/CGTGAC 1 -- ut512Minor allele frequency- C:0.23WA 120
    rs574510171,2
    		C,F,untested49689009(+) CCTCCG/AGGCCG 2 /Q /R mis14Minor allele frequency- A:0.01NA EA EU 4559
    rs584031421,2
    		C,F,untested49689046(+) ACCTTC/TGGTCC 2 F syn14Minor allele frequency- T:0.02CSA EA NA EU 4645
    rs74883431,2
    		C,F,A,untested49689597(+) CTCTTG/CCCTCC 1 -- int19Minor allele frequency- C:0.40NA WA CSA EA 369
    rs20707601,2
    		C,F,A,H,untested49690337(+) GGCGGT/CTTCTG 1 -- int115Minor allele frequency- C:0.12EA NA WA CSA 2169
    rs626365201,2
    		C,F,untested49690798(+) TCGCCG/ACGAAG 2 /T /A mis14Minor allele frequency- A:0.02CSA EA NA EU 5307
    rs626365171,2
    		C,F,untested49691226(+) CGGCTC/GGAGGA 2 L syn11Minor allele frequency- G:0.01EU 687
    rs731121431,2
    		C,F,untested49691250(+) CTAAAA/GGAGGA 2 K syn18Minor allele frequency- G:0.23WA CSA NA EA EU 5061
    rs2001410111,2
    		C,untested49691387(+) CGGGGA/CAGGGC 1 -- int10--------
    rs1121469761,2
    		C,untested49691403(+) CGGGAC/ATGGGC 1 -- int13Minor allele frequency- A:0.08CSA WA NA 240

    HapMap Linkage Disequilibrium report for PRPH (49687035 - 49692481 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PRPH
         1 CNV: 66218
    Human Gene Mutation Database (HGMD): PRPH

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PRPH
    DNA2.0 Custom Variant and Variant Library Synthesis for PRPH

    Disorders / Diseases
    for PRPH gene

    (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.)
    About This Section
    PRPH for disorders           About GeneDecksing

    OMIM gene information: 170710   
    OMIM disorders: 105400  
    20/26 diseases for PRPH (see all 26):    About MalaCards
    amyotrophic lateral sclerosis    lateral sclerosis    charcot-marie-tooth disease    cone-rod dystrophy
    extraskeletal myxoid chondrosarcoma    partial central choroid dystrophy    amyotrophic lateral sclerosis (als)    myxoid chondrosarcoma
    peripheral retinal degeneration    corneal edema    fundus dystrophy    tooth disease
    retinal degeneration    scotoma    chondrosarcoma    macular degeneration
    choroidal dystrophy    neuronitis    hirschsprung's disease    retinitis

    8 diseases from the University of Copenhagen DISEASES database for PRPH:
    Retinitis pigmentosa     Partial central choroid dystrophy     Peripheral retinal degeneration     Macular degeneration
    Fundus dystrophy     Amyotrophic lateral sclerosis     cone-rod dystrophy     Scotoma
    Genetic Association Database (GAD): PRPH
    Human Genome Epidemiology (HuGE) Navigator: PRPH (9 documents)

    Export disorders for PRPH gene to outside databases

    Publications
    for PRPH gene

    (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 PRPH gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with PRPH)    		    Utopia: connect your pdf to the dynamic
    world of online information

    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. (2004)
    2. A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. (PubMed id 15322088)1, 4 Gros-Louis F....Julien J.P. (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. (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. (1994)
    5. Chromosomal localisation of the mouse and human peripherin genes. (PubMed id 1378416)1, 3 Moncla A....Portier M.M. (1992)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. (PubMed id 22360420)1 Martins-de-Souza D....Bahn S. (2012)
    9. A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient. (PubMed id 20363051)1 Corrado L....D'Alfonso S. (2011)
    10. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)

    External Searches for PRPH gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing PRPH gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5630 HGNC: 9461 AceView: PRPH Ensembl:ENSG00000135406 euGenes: HUgn5630
    ECgene: PRPH Kegg: 5630 H-InvDB: PRPH

    Other Databases showing PRPH gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PRPH gene

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

    Intellectual Property
    for PRPH gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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