Gene Gene information from NCBI Gene database.
Entrez ID 2013
Gene name Epithelial membrane protein 2
Gene symbol EMP2
Synonyms (NCBI Gene)
XMP
Chromosome 16
Chromosome location 16p13.13
Summary 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,
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs587777481 G>A Pathogenic Stop gained, coding sequence variant
rs587777482 C>T Pathogenic Missense variant, coding sequence variant
rs730882194 G>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1630
miRTarBase ID miRNA Experiments Reference
MIRT703968 hsa-miR-548c-3p HITS-CLIP 23313552
MIRT703967 hsa-miR-6771-3p HITS-CLIP 23313552
MIRT703966 hsa-miR-4802-3p HITS-CLIP 23313552
MIRT703965 hsa-miR-3675-3p HITS-CLIP 23313552
MIRT703963 hsa-miR-4434 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
78
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001765 Process Membrane raft assembly IEA
GO:0001765 Process Membrane raft assembly ISS
GO:0001787 Process Natural killer cell proliferation IEA
GO:0001787 Process Natural killer cell proliferation ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602334 3334 ENSG00000213853
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54851
Protein name Epithelial membrane protein 2 (EMP-2) (Protein XMP)
Protein function Functions as a key regulator of cell membrane composition by regulating protein surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. Regulates transep
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 1 160 PMP-22/EMP/MP20/Claudin family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in ciliary body epithelia, sclera, cornea, and retinal pigment epithelium (at protein level) (PubMed:12710941). Expressed in lung and endometrial tissue; expression is particularly abundant in secretory endometrium (at protei
Sequence
Sequence length 167
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Focal adhesion  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nephrotic syndrome, type 10 Pathogenic; Likely pathogenic rs730882194, rs747072310 RCV000128431
RCV004560400
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EMP2-related disorder Likely benign; Benign rs141501308, rs114697054, rs150309316, rs139264011, rs2142171096, rs1370457855, rs775265546, rs373918074 RCV004757509
RCV003898825
RCV003936631
RCV003936480
RCV003896551
RCV003984591
RCV003941737
RCV003976300
Sarcoma Uncertain significance rs150986636 RCV005928695
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adrenal Gland Neoplasms Associate 37629198
Alzheimer Disease Associate 23978990
Breast Neoplasms Associate 32857809
Carcinogenesis Associate 33799364
Carcinoma Endometrioid Stimulate 16736513
Carcinoma Non Small Cell Lung Inhibit 33799364
Charcot Marie Tooth disease Type 1C Associate 11713717
Corneal Neovascularization Associate 36371458
Diabetic Retinopathy Associate 35799115
Drug Related Side Effects and Adverse Reactions Stimulate 23334331