• Gene id: 2013

Gene Summary

• Gene Symbol: EMP2   Gene   UCSC   Ensembl
• Aliases: XMP
• Gene name: epithelial membrane protein 2
• Alternate names: epithelial membrane protein 2,
• Gene location: 16p13.13 (10580597: 10528421)     Exons: 6     NC_000016.10
• Gene summary(Entrez): This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion,
• OMIM: 602334

Protein Summary

• Protein general information: P54851  
  • Name: Epithelial membrane protein 2 (EMP 2) (Protein XMP)
  • Length: 167  
  • Mass: 19199
  • Tissue specificity: Expressed in ciliary body epithelia, sclera, cornea, and retinal pigment epithelium (at protein level) (PubMed
• Sequence:

  MLVLLAFIIAFHITSAALLFIATVDNAWWVGDEFFADVWRICTNNTNCTVINDSFQEYSTLQAVQATMILSTILC
  CIAFFIFVLQLFRLKQGERFVLTSIIQLMSCLCVMIAASIYTDRREDIHDKNAKFYPVTREGSYGYSYILAWVAF
  ACTFISGMMYLILRKRK

• Structural information:
  • Interpro: IPR003933  IPR004031  IPR004032  
  • Prosite: PS01221 PS01222
  • STRING: ENSP00000352540
• Other Databases: GeneCards:  EMP2  Malacards:  EMP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2001046	positive regulation of integrin-mediated signaling pathway	IBA	biological process
GO:0001952	regulation of cell-matrix adhesion	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0007155	cell adhesion	IBA	biological process
GO:0019901	protein kinase binding	IBA	molecular function
GO:0045121	membrane raft	IDA	cellular component
GO:0016477	cell migration	IDA	biological process
GO:0043549	regulation of kinase activity	IDA	biological process
GO:0070252	actin-mediated cell contraction	IDA	biological process
GO:0070252	actin-mediated cell contraction	IDA	biological process
GO:0007015	actin filament organization	IDA	biological process
GO:0007160	cell-matrix adhesion	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0032060	bleb assembly	IDA	biological process
GO:0008219	cell death	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0032147	activation of protein kinase activity	IDA	biological process
GO:0008283	cell population proliferation	IDA	NOT|biological process
GO:0043534	blood vessel endothelial cell migration	IDA	biological process
GO:0003093	regulation of glomerular filtration	IDA	biological process
GO:0007155	cell adhesion	IDA	biological process
GO:0045765	regulation of angiogenesis	IDA	biological process
GO:2001212	regulation of vasculogenesis	IDA	biological process
GO:0010594	regulation of endothelial cell migration	IDA	biological process
GO:0045177	apical part of cell	ISS	cellular component
GO:0031410	cytoplasmic vesicle	ISS	colocalizes with
GO:0005901	caveola	ISS	NOT|colocalizes with
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:0001913	T cell mediated cytotoxicity	ISS	biological process
GO:0007566	embryo implantation	IMP	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0070836	caveola assembly	ISS	NOT|biological process
GO:0045022	early endosome to late endosome transport	ISS	biological process
GO:0001765	membrane raft assembly	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0034394	protein localization to cell surface	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0045765	regulation of angiogenesis	IMP	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0019900	kinase binding	IPI	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:2001046	positive regulation of integrin-mediated signaling pathway	IDA	biological process
GO:0001954	positive regulation of cell-matrix adhesion	IDA	biological process
GO:0005178	integrin binding	IPI	molecular function
GO:2001046	positive regulation of integrin-mediated signaling pathway	IEA	biological process
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0007566	embryo implantation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0001913	T cell mediated cytotoxicity	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045022	early endosome to late endosome transport	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005178	integrin binding	IEA	molecular function
GO:0001952	regulation of cell-matrix adhesion	IEA	biological process
GO:0001765	membrane raft assembly	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component

Diseases

Associated diseases	References
Nephrotic syndrome	KEGG:H01657
Nephrotic syndrome	KEGG:H01657
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq