• Gene id: 5376

Gene Summary

• Gene Symbol: PMP22   Gene   UCSC   Ensembl
• Aliases: CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110
• Gene name: peripheral myelin protein 22
• Alternate names: peripheral myelin protein 22, Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia), growth arrest-specific protein 3, peripheral myelin protein 22 kDa,
• Gene location: 17p12 (15265325: 15229776)     Exons: 7     NC_000017.11
• Gene summary(Entrez): 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-Mari
• OMIM: 601097

SNPs

rs148454792

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30233737C>A
NC_000011.9   g.30255284C>A
NG_008144.1   g.7722C>A
NM_000510.3   c.327C>A
NM_000510.2   c.327C>A
NM_001018080.2   c.327C>A
NM_001018080.1   c.327C>A
NP_000501.1   p.Ser109Arg
NP_001018090.1   p.Ser109Arg|SEQ=[C/A]|GENE=FSHB
LOC105376  

rs6170

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30231961G>T
NC_000011.9   g.30253508G>T
NG_008144.1   g.5946G>T
NM_000510.3   c.59G>T
NM_000510.2   c.59G>T
NM_001018080.2   c.59G>T
NM_001018080.1   c.59G>T
NP_000501.1   p.Ser20Ile
NP_001018090.1   p.Ser20Ile|SEQ=[G/T]|GENE=FSHB
LOC105376607   10

Protein Summary

• Protein general information: Q01453  
  • Name: Peripheral myelin protein 22 (PMP 22) (Growth arrest specific protein 3) (GAS 3)
  • Length: 160  
  • Mass: 17891
• Sequence:

  MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNEWLQSVQATMILSIIF
  SILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAWVAFPLALLSG
  VIYVILRKRE

• Structural information:
  • Interpro: IPR003936  IPR004031  IPR004032  
  • Prosite: PS01221 PS01222
  • STRING: ENSP00000484631
• Other Databases: GeneCards:  PMP22  Malacards:  PMP22

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042552	myelination	IBA	biological process
GO:0032288	myelin assembly	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0032060	bleb assembly	IDA	biological process
GO:0008219	cell death	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007422	peripheral nervous system development	TAS	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0043218	compact myelin	IEA	cellular component
GO:0010977	negative regulation of neuron projection development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Dejerine-Sottas disease	KEGG:H02359
Hereditary neuropathy with liability to pressure palsies	KEGG:H01296
Guillain-Barre syndrome	KEGG:H01436
Charcot-Marie-Tooth disease	KEGG:H00264
Dejerine-Sottas disease	KEGG:H02359
Hereditary neuropathy with liability to pressure palsies	KEGG:H01296
Guillain-Barre syndrome	KEGG:H01436
Charcot-Marie-Tooth disease	PMID:9040744
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)