Gene

pmp22a

ID
ZDB-GENE-030131-6757
Name
peripheral myelin protein 22a
Symbol
pmp22a Nomenclature History
Previous Names
  • pmp22
  • wu:fa04d03
  • wu:fa08d03
Type
protein_coding_gene
Location
Chr: 3 Mapping Details/Browsers
Description
Predicted to be located in several cellular components, including Golgi membrane; apical plasma membrane; and membrane raft. 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).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
No data available
Sequence Targeting Reagents
No data available
Human Disease
Associated With pmp22a 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
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Associated With pmp22a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR004031 PMP-22/EMP/MP20/Claudin
Family IPR004032 PMP-22/EMP/MP20
Family IPR050579 Peripheral myelin protein 22/Epithelial membrane protein-like
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Domain Details Per Protein
Protein Additional Resources Length Peripheral myelin protein 22/Epithelial membrane protein-like PMP-22/EMP/MP20 PMP-22/EMP/MP20/Claudin
UniProtKB:A0A8M2BBU0 InterPro 169
UniProtKB:Q6P608 InterPro 157
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 3
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA pmp22a-201 (1) Ensembl 566 nt
mRNA pmp22a-202 (1) Ensembl 1,183 nt
mRNA pmp22a-203 (1) Ensembl 1,003 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-67K15ZFIN Curated Data
EncodesESTfa04d03
EncodesESTfa08d03ZFIN Curated Data
EncodescDNAMGC:77801ZFIN Curated Data
EncodescDNAMGC:174475ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanPMP2217
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
MousePmp2211
Amino acid sequence comparison (1)
Citations
1 - 10 of 10
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