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    Prph2 peripherin 2 [ Mus musculus (house mouse) ]

    Gene ID: 19133, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Prph2provided by MGI
    Official Full Name
    peripherin 2provided by MGI
    Primary source
    MGI:MGI:102791
    See related
    Ensembl:ENSMUSG00000023978 AllianceGenome:MGI:102791
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    RP7; Rd2; Rds; rds; AVMD; PRPH; Rd-2; AOFMD; Nmf193; Tspan22
    Summary
    Enables protein homodimerization activity. Acts upstream of or within several processes, including detection of light stimulus involved in visual perception; photoreceptor cell outer segment organization; and protein complex oligomerization. Located in photoreceptor outer segment. Is expressed in eye; head; retina; and retina outer nuclear layer. Used to study partial central choroid dystrophy; patterned macular dystrophy 1; and retinitis pigmentosa 7. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; eye degenerative disease (multiple); and fundus albipunctatus. Orthologous to human PRPH2 (peripherin 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis adult (RPKM 1.3) See more
    Orthologs
    human all
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    Genomic context

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    See Prph2 in Genome Data Viewer
    Location:
    17 C; 17 22.91 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (47221404..47235859)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (46910478..46924933)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_42682 Neighboring gene BRD4 interacting chromatin remodeling complex associated protein like Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:46965989-46966172 Neighboring gene STARR-seq mESC enhancer starr_42687 Neighboring gene STARR-seq mESC enhancer starr_42689 Neighboring gene STARR-positive B cell enhancer ABC_E170 Neighboring gene STARR-seq mESC enhancer starr_42692 Neighboring gene tubulin-specific chaperone C Neighboring gene ubiquitin protein ligase E3 component n-recognin 2 Neighboring gene STARR-positive B cell enhancer ABC_E3205 Neighboring gene STARR-positive B cell enhancer ABC_E4216 Neighboring gene non-histone chromosomal protein HMG-17 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. RNAi-based suppression and replacement of rds-peripherin in retinal organotypic culture. Palfi A, et al. Hum Mutat, 2006 Mar. PMID 16419083
    2. Intraocular gene transfer of ciliary neurotrophic factor prevents death and increases responsiveness of rod photoreceptors in the retinal degeneration slow mouse. Cayouette M, et al. J Neurosci, 1998 Nov 15. PMID 9801367, Free PMC Article
    3. Diurnal metabolism of dopamine in dystrophic retinas of homozygous and heterozygous retinal degeneration slow (rds) mice. Nir I, et al. Brain Res, 2000 Nov 24. PMID 11082482
    4. Low docosahexaenoic acid levels in rod outer segment membranes of mice with rds/peripherin and P216L peripherin mutations. Anderson RE, et al. Invest Ophthalmol Vis Sci, 2001 Jul. PMID 11431433
    5. Regulation of cAMP by light and dopamine receptors is dysfunctional in photoreceptors of dystrophic retinal degeneration slow(rds) mice. Nir I, et al. Exp Eye Res, 2001 Aug. PMID 11446777

    See all (200) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of rhodopsin is an effective therapeutic strategy in ameliorating peripherin-2-associated inherited retinal disorders.
      Title: Downregulation of rhodopsin is an effective therapeutic strategy in ameliorating peripherin-2-associated inherited retinal disorders.
    2. ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims.
      Title: ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims.
    3. Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation.
      Title: Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation.
    4. PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
      Title: PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
    5. Photoreceptor Disc Enclosure Is Tightly Controlled by Peripherin-2 Oligomerization.
      Title: Photoreceptor Disc Enclosure Is Tightly Controlled by Peripherin-2 Oligomerization.
    6. ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
      Title: ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
    7. Syntaxin 3 is essential for photoreceptor outer segment protein trafficking and survival.
      Title: Syntaxin 3 is essential for photoreceptor outer segment protein trafficking and survival.
    8. Novel molecular mechanisms for Prph2-associated pattern dystrophy.
      Title: Novel molecular mechanisms for Prph2-associated pattern dystrophy.
    9. The Late Endosomal Pathway Regulates the Ciliary Targeting of Tetraspanin Protein Peripherin 2.
      Title: The Late Endosomal Pathway Regulates the Ciliary Targeting of Tetraspanin Protein Peripherin 2.
    10. PRPH2_c.668T > A provided a molecular explanation of retinitis pigmentosa symptomatology, highlighting the clinical utility of NGS panels to facilitate genotype-phenotype correlations.
      Title: NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (5)  1 citation
    • Spontaneous (1) 
    • Targeted (7)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within detection of light stimulus involved in visual perception IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within detection of light stimulus involved in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within photoreceptor cell outer segment organization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within photoreceptor cell outer segment organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein heterooligomerization IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within protein homooligomerization IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to low light intensity stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within retina development in camera-type eye IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within retina development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    peripherin-2
    Names
    retinal degeneration 2
    retinal degeneration slow protein
    retinal degeneration, slow (retinitis pigmentosa 7)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_008938.2 → NP_032964.1  peripherin-2

      See identical proteins and their annotated locations for NP_032964.1

      Status: VALIDATED

      Source sequence(s)
      AK044549, BE950297, X14770
      Consensus CDS
      CCDS28844.1
      UniProtKB/Swiss-Prot
      P15499
      UniProtKB/TrEMBL
      Q3UWK3, Q8C8S8
      Related
      ENSMUSP00000024773.6, ENSMUST00000024773.6
      Conserved Domains (3) summary
      cd03162
      Location:120 → 262
      peripherin_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), peripherin_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:20 → 277
      Tetraspannin; Tetraspanin family
      cl04176
      Location:58 → 123
      TDT; The Tellurite-resistance/Dicarboxylate Transporter (TDT) family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      47221404..47235859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15499.1 GenPept UniProtKB/Swiss-Prot:P15499

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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