• Gene id: 5375

Gene Summary

• Gene Symbol: PMP2   Gene   UCSC   Ensembl
• Aliases: CMT1G, FABP8, M-FABP, MP2, P2
• Gene name: peripheral myelin protein 2
• Alternate names: myelin P2 protein,
• Gene location: 8q21.13 (81447438: 81440325)     Exons: 4     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this g
• OMIM: 170715

SNPs

rs7811653

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

NC_000007.14   g.46362671C>A
NC_000007.13   g.46402269C>A|SEQ=[C/A]

rs4541736

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

NC_000006.12   g.40722258C>A
NC_000006.12   g.40722258C>G
NC_000006.12   g.40722258C>T
NC_000006.11   g.40689997C>A
NC_000006.11   g.40689997C>G
NC_000006.11   g.40689997C>T|SEQ=[C/A/G/T]|GENE=LOC105375052

Protein Summary

• Protein general information: P02689  
  • Name: Myelin P2 protein (Peripheral myelin protein 2)
  • Length: 132  
  • Mass: 14909
• Sequence:

  MSNKFLGTWKLVSSENFDDYMKALGVGLATRKLGNLAKPTVIISKKGDIITIRTESTFKNTEISFKLGQEFEETT
  ADNRKTKSIVTLQRGSLNQVQRWDGKETTIKRKLVNGKMVAECKMKGVVCTRIYEKV

• Structural information:
  • Interpro: IPR012674  IPR000463  IPR031259  IPR000566  IPR031256  
  • Prosite: PS00214
  • PDB: 2WUT 3NR3 4A1H 4A1Y 4A8Z 4BVM 4D6A 4D6B 5N4M 5N4P 5N4Q 6EW2 6EW4 6EW5 6S2M 6S2S
  • PDBsum: 2WUT 3NR3 4A1H 4A1Y 4A8Z 4BVM 4D6A 4D6B 5N4M 5N4P 5N4Q 6EW2 6EW4 6EW5 6S2M 6S2S
  • STRING: ENSP00000256103
• Other Databases: GeneCards:  PMP2  Malacards:  PMP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005504	fatty acid binding	IDA	molecular function
GO:0015485	cholesterol binding	IDA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0043209	myelin sheath	IEA	cellular component
GO:0061024	membrane organization	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061024	membrane organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
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)