Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2013
Gene name Gene Name - the full gene name approved by the HGNC.
Epithelial membrane protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EMP2
Synonyms (NCBI Gene) Gene synonyms aliases
XMP
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602334 3334 ENSG00000213853
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nephrotic Syndrome nephrotic syndrome, type 10 rs730882194 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Eating Disorders Eating disorders N/A N/A GWAS
Associations from Text Mining Disease 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