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    pmp22a peripheral myelin protein 22a [ Danio rerio (zebrafish) ]

    Gene ID: 334817, updated on 9-Dec-2024

    Summary

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    Official Symbol
    pmp22aprovided by ZNC
    Official Full Name
    peripheral myelin protein 22aprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-030131-6757
    See related
    Ensembl:ENSDARG00000105223 AllianceGenome:ZFIN:ZDB-GENE-030131-6757
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    pmp22; wu:fa04d03; wu:fa08d03
    Summary
    Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in head mesenchyme; myotome; pectoral fin; pharyngeal arch; and somite. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); Guillain-Barre syndrome; and hereditary neuropathy with liability to pressure palsies. Orthologous to human PMP22 (peripheral myelin protein 22). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See pmp22a in Genome Data Viewer
    Location:
    chromosome: 3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 3 NC_007114.7 (50861176..50865110, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 3 NC_007114.6 (49821187..49825110, complement)

    Chromosome 3 - NC_007114.7Genomic Context describing neighboring genes Neighboring gene germ cell-specific gene 1-like protein Neighboring gene uncharacterized LOC103910328 Neighboring gene uncharacterized LOC110439303 Neighboring gene uncharacterized LOC137490156 Neighboring gene CDC42 effector protein (Rho GTPase binding) 4a Neighboring gene uncharacterized LOC137490776

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Characterization of peripheral myelin protein 22 in zebrafish (zPMP22) suggests an early role in the development of the peripheral nervous system. Wulf P, et al. J Neurosci Res, 1999 Aug 15. PMID 10440896
    2. Temporal and spatial expression analysis of peripheral myelin protein 22 (Pmp22) in developing Xenopus. Tae HJ, et al. Gene Expr Patterns, 2015 Jan. PMID 25616247
    3. Functional and comparative genomics analyses of pmp22 in medaka fish. Itou J, et al. BMC Neurosci, 2009 Jun 17. PMID 19534778, Free PMC Article
    4. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Boczonadi V, et al. Nat Commun, 2014 Jul 3. PMID 24989451, Free PMC Article
    5. CNS myelin protein 36K regulates oligodendrocyte differentiation through Notch. Nagarajan B, et al. Glia, 2020 Mar. PMID 31702067

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    peripheral myelin protein 22a
    Names
    peripheral myelin protein 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.

    mRNA and Protein(s)

    1. NM_201311.1 → NP_958468.1  peripheral myelin protein 22a

      See identical proteins and their annotated locations for NP_958468.1

      Status: PROVISIONAL

      Source sequence(s)
      BC062526
      UniProtKB/TrEMBL
      A8E5J3, Q6P608
      Related
      ENSDARP00000132259.1, ENSDART00000165083.2
      Conserved Domains (1) summary
      cl21598
      Location:1 → 150
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007114.7 Reference GRCz11 Primary Assembly

      Range
      50861176..50865110 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005164439.5 → XP_005164496.1  peripheral myelin protein 22a isoform X1

      UniProtKB/TrEMBL
      A0A8M2BBU0
      Conserved Domains (1) summary
      cl21598
      Location:13 → 162
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    2. XM_005164440.5 → XP_005164497.1  peripheral myelin protein 22a isoform X2

      See identical proteins and their annotated locations for XP_005164497.1

      UniProtKB/TrEMBL
      A8E5J3, Q6P608
      Related
      ENSDARP00000140206.1, ENSDART00000169771.2
      Conserved Domains (1) summary
      cl21598
      Location:1 → 150
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    Reference GRCz11 ALT_DRER_TU_1

    Genomic

    1. NW_018394540.1 Reference GRCz11 ALT_DRER_TU_1

      Range
      16808..19088 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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