• Gene id: 10205

Gene Summary

• Gene Symbol: MPZL2   Gene   UCSC   Ensembl
• Aliases: DFNB111, EVA, EVA1
• Gene name: myelin protein zero like 2
• Alternate names: myelin protein zero-like protein 2, epithelial V-like antigen 1,
• Gene location: 11q23.3 (44537067: 44562802)     Exons: 8     NC_000015.10
• Gene summary(Entrez): Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression.
• OMIM: 604873

Protein Summary

• Protein general information: O60487  
  • Name: Myelin protein zero like protein 2 (Epithelial V like antigen 1)
  • Length: 215  
  • Mass: 24484
  • Tissue specificity: Widely expressed. In fetal tissues, highest expression in the inner ear. In adult tissues, highest levels in thymus and lung. {ECO
• Sequence:

  MYGKSSTRAVLLLLGIQLTALWPIAAVEIYTSRVLEAVNGTDARLKCTFSSFAPVGDALTVTWNFRPLDGGPEQF
  VFYYHIDPFQPMSGRFKDRVSWDGNPERYDASILLWKLQFDDNGTYTCQVKNPPDVDGVIGEIRLSVVHTVRFSE
  IHFLALAIGSACALMIIIVIVVVLFQHYRKKRWAERAHKVVEIKSKEEERLNQEKKVSVYLEDTD

• Structural information:
  • Protein Domains: (27..14-)
    (/note="Ig-like-V-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR013106   IPR029863  IPR000920  
  • Prosite: PS50835
  • STRING: ENSP00000278937
• Other Databases: GeneCards:  MPZL2  Malacards:  MPZL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
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)