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Tbio
PMP22
Peripheral myelin protein 22

Protein Summary
Description
Might be involved in growth regulation, and in myelinization in the peripheral nervous system. This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000312280
  • ENSP00000308937
  • ENSG00000109099
  • ENST00000395938
  • ENSP00000379269
  • ENST00000612492
  • ENSP00000484631

Symbol
  • GAS3
  • DSS
  • CIDP
  • GAS3
  • HNPP
  • CMT1A
  • CMT1E
  • GAS-3
  • Sp110
  • HMSNIA
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
PubMedID
1
transcription factor perturbation
0.99
disease perturbation
0.93
kinase perturbation
0.84
small molecule perturbation
0.82


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 417.56   (req: < 5)
Gene RIFs: 106   (req: <= 3)
Antibodies: 359   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 417.56   (req: >= 5)
Gene RIFs: 106   (req: > 3)
Antibodies: 359   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
premature birth
1
1
0
1.1
0.2
parental genotype effect measurement
1
1
0
1.1
0.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
premature birth
0
1.1
0.2
parental genotype effect measurement
0
1.1
0.2
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
peripheral myelin protein 22
VGNC:9530
744977
Macaque
peripheral myelin protein 22
693527
Mouse
MGI:97631
18858
Rat
RGD:3359
24660
Dog
peripheral myelin protein 22
VGNC:44735
479509
Species
Name
OMA
EggNOG
Inparanoid
Chimp
peripheral myelin protein 22
Macaque
peripheral myelin protein 22
Mouse
Rat
Dog
peripheral myelin protein 22
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q01453-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Gene Ontology Terms (12)
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (55)
1 – 10 of 55
MPZ
Tbio
Novelty:  0.00223212
Score:  0.919
Data Source:  STRINGDB
LAMB1
Tbio
Novelty:  0.0104285
Score:  0.905
Data Source:  STRINGDB
ITGB4
Tbio
Novelty:  0.00386461
Score:  0.905
Data Source:  STRINGDB
LAMC2
Tbio
Novelty:  0.00695692
Score:  0.9
Data Source:  STRINGDB
ITGA6
Tbio
Novelty:  0.00217985
Score:  0.9
Data Source:  STRINGDB
LAMA1
Tbio
Novelty:  0.00852401
Score:  0.9
Data Source:  STRINGDB
GJB1
Tbio
Novelty:  0.00109019
Score:  0.792
Data Source:  STRINGDB
CLDN11
Tbio
Novelty:  0.00275436
Score:  0.747
Data Source:  STRINGDB
TSPAN4
Tbio
Novelty:  0.03394894
Score:  0.698
Data Source:  STRINGDB
MAG
Tchem
Novelty:  0.00085621
Score:  0.684
Data Source:  STRINGDB
Publication Statistics
PubMed Score  417.56

PubMed score by year
PubTator Score  637.73

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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