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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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