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PRPH2 Gene

protein-coding   GIFtS: 54
GCID: GC06M042664

Peripherin 2 (Retinal Degeneration, Slow)

(Previous names: retinal degeneration, slow (retinitis pigmentosa 7), retinal...)
(Previous symbols: RP7, RDS)
  See PRPH2-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
Peripherin 2 (Retinal Degeneration, Slow)1 2     Retinal Degeneration, Slow1
RDS1 2 3     Retinal Degeneration, Slow (Retinitis Pigmentosa 7)1
RP71 2 5     Peripherin 2, Homolog Of Mouse2
PRPH2 3 5     Peripherin, Photoreceptor Type2
Retinal Peripherin1 2     peripherin-22
Retinal Degeneration Slow Protein2 3     rd22
TSPAN222 3     tetraspanin-222
AOFMD2 5     tspan-222
AVMD2 5     Tetraspanin-223
CACD22 5     Tspan-223
DS2 5     

External Ids:    HGNC: 99421   Entrez Gene: 59612   Ensembl: ENSG000001126197   OMIM: 1796055   UniProtKB: P239423   

Export aliases for PRPH2 gene to outside databases

Previous GC identifers: GC06M042773 GC06M042382


(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 PRPH2 Gene:
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin
family. Most of these members are cell-surface proteins that are characterized by the presence of four
hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell
development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the
outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in
stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This
protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral
retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis
pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. (provided by
RefSeq, Jul 2008)

GeneCards Summary for PRPH2 Gene:
PRPH2 (peripherin 2 (retinal degeneration, slow)) is a protein-coding gene. Diseases associated with PRPH2 include macular dystrophy, and prph2-related adult-onset vitelliform macular dystrophy. An important paralog of this gene is ROM1.

UniProtKB/Swiss-Prot: PRPH2_HUMAN, P23942
Function: May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or
in the maintenance of the curvature of the rim. It is essential for disk morphogenesis

Gene Wiki entry for PRPH2 (Peripherin 2) 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_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PRPH2 gene promoter:
         RFX1   NRSF form 1   Pax-2   Pax-2a   NRSF form 2   FOXO1a   Meis-1a   LyF-1   Meis-1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRPH2 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PRPH2


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

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

PRPH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRPH2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M042664:  view genomic region     (about GC identifiers)

Start:
42,664,333 bp from pter      End:
42,690,358 bp from pter
Size:
26,026 bases      Orientation:
minus 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: PRPH2_HUMAN, P23942 (See protein sequence)
Recommended Name: Peripherin-2  
Size: 346 amino acids; 39186 Da
Subunit: Homodimer; disulfide-linked. Probably forms a complex with a ROM1 homodimer. Other proteins could
associate with this complex in rods. Interacts with MREG
Secondary accessions: Q5TFH5 Q6DK65

Explore the universe of human proteins at neXtProt for PRPH2: NX_P23942

Explore proteomics data for PRPH2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn53, Asn229
  • Modification sites at PhosphoSitePlus

  • See PRPH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000313.2  
    ENSEMBL proteins: 
     ENSP00000230381  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TSPAN: Tetraspanins

    4 InterPro protein domains:
     IPR000830 Peripherin/rom-1
     IPR018499 Tetraspanin/Peripherin
     IPR018498 Peripherin/rom-1_CS
     IPR008952 Tetraspanin_EC2

    Graphical View of Domain Structure for InterPro Entry P23942

    ProtoNet protein and cluster: P23942

    2 Blocks protein domains:
    IPB000301 Transmembrane four family signature
    IPB000830 Peripherin/rom-1 family


    UniProtKB/Swiss-Prot: PRPH2_HUMAN, P23942
    Similarity: Belongs to the PRPH2/ROM1 family


    Find genes that share domains with PRPH2           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: PRPH2_HUMAN, P23942
    Function: May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or
    in the maintenance of the curvature of the rim. It is essential for disk morphogenesis

    Phenotypes:
         1 GenomeRNAi human phenotype for PRPH2:

     Decreased number of cells in m 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Prph2):
     cardiovascular system  cellular  hematopoietic system  immune system  nervous system 
     pigmentation  vision/eye 

    Find genes that share phenotypes with PRPH2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PRPH2

    miRNA
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    miRTarBase miRNAs that target PRPH2:
    hsa-mir-124-3p (MIRT022594)

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    8 qRT-PCR Assays for microRNAs that regulate PRPH2:
    hsa-miR-30c-2* hsa-miR-30c-1* hsa-miR-3065-3p hsa-miR-4268 hsa-miR-2278 hsa-miR-4302 hsa-miR-4290 hsa-miR-432
    SwitchGear 3'UTR luciferase reporter plasmidPRPH2 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PRPH2_HUMAN, P23942: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytoskeleton2
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with PRPH2           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 PRPH2
    Interactions:

        Search GeneGlobe Interaction Network for PRPH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for PRPH2 (P239423 ENSP000002303814) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ROM1Q033953, ENSP000002788334I2D: score=1 STRING: ENSP00000278833
    CNGB1Q140283, ENSP000002511024I2D: score=1 STRING: ENSP00000251102
    GRAP2O757913, ENSP000003391864I2D: score=1 STRING: ENSP00000339186
    PRPHP412193, ENSP000002578604I2D: score=1 STRING: ENSP00000257860
    NEFHENSP000003119974STRING: ENSP00000311997
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007601visual perception IEA--
    GO:0060041retina development in camera-type eye IEA--

    Find genes that share ontologies with PRPH2           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 PRPH2

    3 Novoseek inferred chemical compound relationships for PRPH2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 10.7 2 11427722 (1)
    aspartate 0.431 1 8485574 (1)
    calcium 0 1 17323925 (1)



    Find genes that share compounds with PRPH2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PRPH2 gene: 
    NM_000322.4  

    Unigene Cluster for PRPH2:

    Peripherin 2 (retinal degeneration, slow)
    Hs.654489  [show with all ESTs]
    Unigene Representative Sequence: BX640679
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000230381(uc003osk.3)
    miRNA
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    hsa-miR-30c-2* hsa-miR-30c-1* hsa-miR-3065-3p hsa-miR-4268 hsa-miR-2278 hsa-miR-4302 hsa-miR-4290 hsa-miR-432
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      QuantiTect SYBR Green Assays in human, mouse, rat PRPH2
      QuantiFast Probe-based Assays in human, mouse, rat PRPH2

    Additional mRNA sequence: 

    BC074720.2 BX640679.1 M62958.1 

    1 DOTS entry:

    DT.211916 

    Selected AceView cDNA sequences (see all 64):

    AL713470 C20745 BQ639018 BQ637426 BM695796 AL712908 BM672853 M73531 
    AA424414 AI289049 BV180688 AL712587 CB156633 BX490846 AL713015 AA318111 
    M62958 AL713088 AL713176 BX510250 BQ640581 BF222106 AL713253 AI632717 

    GeneLoc Exon Structure


    (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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    PRPH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAACACTA
    PRPH2 Expression
    About this image


    PRPH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Rod Cells Outer Nuclear Layer
             Retina
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
    PRPH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRPH2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654489

    UniProtKB/Swiss-Prot: PRPH2_HUMAN, P23942
    Tissue specificity: Retina (photoreceptor). In rim region of ROS (rod outer segment) disks

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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 PRPH2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prph21 , 5 peripherin 21, 5 87.38(n)1
    91.04(a)1
      17 (22.91 cM)5
    191331  NM_008938.11  NP_032964.11 
     469104595 
    chicken
    (Gallus gallus)
    Aves PRPH21 peripherin 2 (retinal degeneration, slow) 77.2(n)
    80(a)
      395899  NM_205038.1  NP_990369.1 
    lizard
    (Anolis carolinensis)
    Reptilia PRPH26
    peripherin 2 (retinal degeneration, slow)
    74(a)
    1 ↔ 1
    1(236627428-236655091)
    African clawed frog
    (Xenopus laevis)
    Amphibia rds382 rds/peripherin 76.67(n)    L79915.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rds42 retinal degradation slow 4 80.57(n)   58086  BC059645.1 


    ENSEMBL Gene Tree for PRPH2 (if available)
    TreeFam Gene Tree for PRPH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PRPH2 gene
    ROM12  
    1 SIMAP similar gene for PRPH2 using alignment to 1 protein entry:     PRPH2_HUMAN:
    ROM1

    Find genes that share paralogs with PRPH2           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 PRPH2 (see all 850)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219185671,2,,4
    CChoroidal dystrophy, central areolar 2 (CACD2)4 pathogenic142582966(-) AAGTCG/TAATCA 2 R L mis10--------
    rs617557701,2,,4
    C,FRetinitis pigmentosa 7 (RP7)4 untested142600557(-) TTGAAC/TTCCGA 2 L F mis12Minor allele frequency- T:0.01WA NA 4668
    VAR_0068744
    Retinitis pigmentosa 7 (RP7)4--see VAR_0068742 P R mis40--------
    VAR_0320524
    Patterned dystrophy of retinal pigment epithelium (PDREP)4--see VAR_0320522 G S mis40--------
    VAR_0068604
    Retinitis pigmentosa 7 (RP7)4--see VAR_0068602 R W mis40--------
    VAR_0068534
    Retinitis pigmentosa 7 (RP7)4--see VAR_0068532 R W mis40--------
    VAR_0068864
    Patterned dystrophy of retinal pigment epithelium (PDREP)4--see VAR_0068862 R W mis40--------
    VAR_0068714
    Retinitis pigmentosa 7 (RP7)4--see VAR_0068712 L P mis40--------
    VAR_0068874
    Retinitis pigmentosa 7 (RP7)4--see VAR_0068872 N K mis40--------
    VAR_0068924
    Adult-onset vitelliform macular dystrophy (AVMD)4--see VAR_0068922 G D mis40--------

    HapMap Linkage Disequilibrium report for PRPH2 (42664333 - 42690358 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PRPH2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507327CNV Insertion20534489
    nsv519124CNV Loss19592680
    nsv830650CNV Loss17160897

    Human Gene Mutation Database (HGMD): PRPH2
    Locus Specific Mutation Databases (LSDB): PRPH2

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 179605   
    OMIM disorders: 608133  136880  169150  608161  613105  
    UniProtKB/Swiss-Prot: PRPH2_HUMAN, P23942
  • Retinitis pigmentosa 7 (RP7) [MIM:608133]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Retinitis punctata albescens (RPA) [MIM:136880]: Rare form of stationary night blindness characterized by
    a delay in the regeneration of cone and rod photopigments. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]: A rare autosomal dominant disorder with
    incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth
    decade of life with a protracted disease of decreased visual acuity. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]: A heterogeneous group of macular
    disorders. Three main types of PDREP have been described: reticular (fishnet-like) dystrophy, macroreticular
    (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105]: A disease of the macula leading to a
    well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Note=Defects in PRPH2 are found in different retinal diseases including cone-rod dystrophy, retinitis
    pigmentosa, macular degeneration. The mutations underlying autosomal dominant retinitis pigmentosa and severe
    macular degeneration are largely missense or small in-frame deletions in a large intradiscal loop between the
    third and fourth transmembrane domains. In contrast, those associated with the milder pattern phenotypes or with
    digenic RP are scattered more evenly through the gene and are often nonsense mutations. This observation
    correlates with the hypothesis that the large loop is an important site of interaction between PRPH2 molecules
    and other protein components in the disk

  • Selected diseases for PRPH2 (see all 27):    
    About MalaCards
    macular dystrophy    prph2-related adult-onset vitelliform macular dystrophy    patterned dystrophy of retinal pigment epithelium    choroidal dystrophy, central areolar 2
    prph2-related retinitis pigmentosa    prph2-related cone-rod dystrophy    prph2-related fundus albipunctatus    retinitis pigmentosa, digenic
    retinitis pigmentosa 7    macular dystrophy, patterned    lethal congenital contracture syndrome 5    retinal degeneration
    vitelliform macular dystrophy    retinitis pigmentosa 7, digenic    adult-onset vitelliform macular dystrophy    choriodal dystrophy, central areolar 2
    retinitis    stargardt macular degeneration    partial central choroid dystrophy    peripheral retinal degeneration

    3 diseases from the University of Copenhagen DISEASES database for PRPH2:
    Partial central choroid dystrophy     Retinitis pigmentosa     Vitelliform macular dystrophy

    Find genes that share disorders with PRPH2           About GenesLikeMe

    7 Novoseek inferred disease relationships for PRPH2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 88.1 11 11139690 (2), 8045710 (2), 1684223 (2), 11427722 (1) (see all 8)
    retinal degeneration 79.5 6 1415249 (1), 20238065 (1), 8504299 (1), 19952284 (1) (see all 6)
    cone-rod dystrophy 76.8 1 9425234 (1)
    lebers congenital amaurosis 56.5 1 11139690 (1)
    maculopathy 54.5 2 12882809 (2)
    retinopathy 50.3 4 11427722 (1), 17249567 (1), 20238065 (1), 8045710 (1)
    amyotrophic lateral sclerosis 17 1 15446584 (1)

    Genetic Association Database (GAD): PRPH2
    Human Genome Epidemiology (HuGE) Navigator: PRPH2 (6 documents)

    Export disorders for PRPH2 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 PRPH2 gene, integrated from 10 sources (see all 133):
    (articles sorted by number of sources associating them with PRPH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. (PubMed id 1749427)1, 2, 3 Farrar G.J.... Humphries P. (Nature 1991)
    2. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. (PubMed id 8956033)1, 2, 9 Keen T.J. and Inglehearn C.F. (Hum. Mutat. 1996)
    3. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. (PubMed id 8485574)1, 2, 9 Nichols B.E....Stone E.M. (Nat. Genet. 1993)
    4. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. (PubMed id 1684223)1, 2, 9 Kajiwara K....Dryja T.P. (Nature 1991)
    5. Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation. (PubMed id 19262438)1, 4 Anand S....McKibbin M. (Retina (Philadelphia, Pa.) 2009)
    6. Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa. (PubMed id 19506198)1, 4 Lim K.P....To C.H. (Arch. Ophthalmol. 2009)
    7. High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. (PubMed id 17653047)1, 4 Gamundi M.J....Carballo M. (Mol. Vis. 2007)
    8. Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene. (PubMed id 16832026)1, 2 Keilhauer C.N.... Weber B.H. (Arch. Ophthalmol. 2006)
    9. Utility of molecular testing for related retinal dystrophies. (PubMed id 16767206)1, 4 Mezer E....Levin A.V. (Can. J. Ophthalmol. 2006)
    10. A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene. (PubMed id 14557182)1, 2 van Lith-Verhoeven J.J.... de Jong P.T. (Arch. Ophthalmol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5961 HGNC: 9942 AceView: RDS Ensembl:ENSG00000112619 euGenes: HUgn5961
    ECgene: PRPH2 H-InvDB: PRPH2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for PRPH2 Pharmacogenomics, SNPs, Pathways
    Mutations of the RDS genehttp://www.retina-international.org/files/sci-news/rdsmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PRPH2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PRPH2 gene:
    Search GeneIP for patents involving PRPH2

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



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