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    PRPH2 peripherin 2 [ Homo sapiens (human) ]

    Gene ID: 5961, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PRPH2provided by HGNC
    Official Full Name
    peripherin 2provided by HGNC
    Primary source
    HGNC:HGNC:9942
    See related
    Ensembl:ENSG00000112619 MIM:179605; AllianceGenome:HGNC:9942
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DS; RDS; RP7; rd2; AVMD; PRPH; AOFMD; CACD2; MDBS1; TSPAN22
    Summary
    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]
    Annotation information
    Note: PRPH2 (Gene ID: 5961) and PRPH (Gene ID: 5630) loci share the PRPH symbol/alias in common. [08 Feb 2019]
    Expression
    Broad expression in brain (RPKM 1.8), thyroid (RPKM 1.7) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRPH2 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42696598..42722597, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42525027..42556549, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42664336..42690335, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24561 Neighboring gene ubiquitin protein ligase E3 component n-recognin 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42571822-42572008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24562 Neighboring gene RNA, U6 small nuclear 890, pseudogene Neighboring gene MPRA-validated peak5809 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42677933-42678518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24563 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24565 Neighboring gene ATPase H+ transporting V0 subunit c pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24568 Neighboring gene tubulin folding cofactor C

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Boon CJ, et al. Prog Retin Eye Res, 2008 Mar. PMID 18328765
    2. Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. Yanagihashi S, et al. Arch Ophthalmol, 2003 Oct. PMID 14557183
    3. A novel tetraspanin fusion protein, peripherin-2, requires a region upstream of the fusion domain for activity. Damek-Poprawa M, et al. J Biol Chem, 2005 Mar 11. PMID 15591062
    4. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Michaelides M, et al. Ophthalmology, 2005 Sep. PMID 16019073
    5. Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene. Keilhauer CN, et al. Ophthalmic Genet, 2006 Dec. PMID 17148040

    See all (120) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
      Title: PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
    2. NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT.
      Title: NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT.
    3. Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.
      Title: Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.
    4. PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.
      Title: PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.
    5. New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
      Title: New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
    6. PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
      Title: PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
    7. PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.
      Title: PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.
    8. Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.
      Title: Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.
    9. Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
      Title: Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
    10. Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
      Title: Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
    Submit: New GeneRIF Correction See all GeneRIFs (88)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Choroidal dystrophy, central areolar 2
    MedGen: C2751290 OMIM: 613105 GeneReviews: Not available
    		not available
    Cone-rod dystrophy
    MedGen: C4085590 GeneReviews: Not available
    		not available
    Patterned macular dystrophy 1
    MedGen: C4551999 OMIM: 169150 GeneReviews: Not available
    		not available
    Pigmentary retinal dystrophy
    MedGen: C0311338 OMIM: 136880 GeneReviews: Not available
    		not available
    Retinitis pigmentosa 7
    MedGen: C1842475 OMIM: 608133 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
    		not available
    Vitelliform macular dystrophy 3
    MedGen: CN295869 OMIM: 608161 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in detection of light stimulus involved in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in photoreceptor cell outer segment organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein heterooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    involved_in retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    choroidal dystrophy, central areolar 2
    peripherin 2 (retinal degeneration, slow)
    peripherin 2, homolog of mouse
    peripherin, photoreceptor type
    retinal degeneration slow protein
    retinal peripherin
    tetraspanin-22
    tspan-22

    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.

    Genomic

    1. NG_009176.2 RefSeqGene

      Range
      5024..31023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000322.5 → NP_000313.2  peripherin-2

      Status: REVIEWED

      Source sequence(s)
      AL049843, BC074720
      Consensus CDS
      CCDS4871.1
      UniProtKB/Swiss-Prot
      P23942, Q5TFH5, Q6DK65
      Related
      ENSP00000230381.5, ENST00000230381.7
      Conserved Domains (2) 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      42696598..42722597 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007059288.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      42525027..42556549 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356148.1 → XP_054212123.1  peripherin-2 isoform X1

    RNA

    1. XR_008487374.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23942.2 GenPept UniProtKB/Swiss-Prot:P23942

    Gene LinkOut

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

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