• Gene id: 5827

Gene Summary

• Gene Symbol: PXMP2   Gene   UCSC   Ensembl
• Aliases: MPV17L3, PMP22
• Gene name: peroxisomal membrane protein 2
• Alternate names: peroxisomal membrane protein 2, 22 kDa peroxisomal membrane protein, peroxisomal membrane protein 2, 22kDa,
• Gene location: 12q24.33 (132687586: 132704984)     Exons: 5     NC_000012.12
• OMIM: 601619

Protein Summary

• Protein general information: Q9NR77  
  • Name: Peroxisomal membrane protein 2 (22 kDa peroxisomal membrane protein)
  • Length: 195  
  • Mass: 22253
• Sequence:

  MAPAASRLRAEAGLGALPRRALAQYLLFLRLYPVLTKAATSGILSALGNFLAQMIEKKRKKENSRSLDVGGPLRY
  AVYGFFFTGPLSHFFYFFMEHWIPPEVPLAGLRRLLLDRLVFAPAFLMLFFLIMNFLEGKDASAFAAKMRGGFWP
  ALRMNWRVWTPLQFININYVPLKFRVLFANLAALFWYAYLASLGK

• Structural information:
  • Interpro: IPR007248  
  • STRING: ENSP00000321271
• Other Databases: GeneCards:  PXMP2  Malacards:  PXMP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
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:0005778	peroxisomal membrane	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005778	peroxisomal membrane	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
Roussy-Levy syndrome	KEGG:H01155
Roussy-Levy syndrome	KEGG:H01155
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq