ZFIN ID: ZDB-GENE-060421-4337
Gene Name: peripheral myelin protein 22b
Gene Symbol: pmp22b    Nomenclature History

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Previous Names: id:ibd2630, wu:fb81f09, zgc:136919

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 12 Mapping Details/Browsers
Description: Predicted to localize to plasma membrane. Is expressed in notochord; otic placode; otic vesicle; somite; and tail bud. 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).
Genome Resources: Alliance (1),  Gene:678607 (1),  Ensembl(GRCz11):ENSDARG00000060457 (2)
GENE EXPRESSION
Directly Submitted Expression Data: 3 figures (4 images) from Kudoh et al., 2001 [ibd2630]
Wild-type Stages, Structures: Segmentation:5-9 somites (11.66h-14.0h) to Pharyngula:Prim-5 (24.0h-30.0h)
 
High Throughput Expression: GEO (1) Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS No data available
PHENOTYPE No data available
DISEASE ASSOCIATED WITH pmp22b HUMAN ORTHOLOG
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Charcot-Marie-Tooth disease type 1A Alliance Charcot-Marie-Tooth disease, type 1A 118220
Charcot-Marie-Tooth disease type 1E Alliance Charcot-Marie-Tooth disease, type 1E 118300
Charcot-Marie-Tooth disease type 3 Alliance Dejerine-Sottas disease 145900
Guillain-Barre syndrome Alliance ?Neuropathy, inflammatory demyelinating 139393
hereditary neuropathy with liability to pressure palsies Alliance Neuropathy, recurrent, with pressure palsies 162500
Roussy-Levy syndrome 180800
DISEASE ASSOCIATED WITH pmp22b VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process biological_process (more)
Cellular Component integral component of membrane (more)
Molecular Function molecular_function (more)
GO Terms (all 5)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA pmp22b-201 (1)    Ensembl 3161
pmp22b-202 (1)    Ensembl 682
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM pmp22b No data available
MARKER RELATIONSHIPS
pmp22b Contained in: [BAC] CH211-152F22 (1)
pmp22b Encodes: [EST] fb81f09, ibd2630, IMAGE:7036435
[cDNA] MGC:136919 (1), MGC:174239 (1)
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_001040355 (1) 1382 nt
Genomic GenBank:CR293521 (1) 152631 nt
Select Tool
Polypeptide UniProtKB:Q1RLQ8 (1) 155 aa
Sequence Information (all 17)
ORTHOLOGY for pmp22b ( Chr: 12 )
CITATIONS (20)