EMP2
Epithelial membrane protein 2
Also known as: EMP2_HUMAN, XMP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P54851
- Gene
- EMP2
- Ensembl
- ENSG00000213853
- Chromosome
- 16
- Canonical length
- 167 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI 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, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015]
Canonical amino-acid sequenceUniProt
167 residues, UniProt reviewed canonical sequence.
>P54851|EMP2
1 MLVLLAFIIA FHITSAALLF IATVDNAWWV GDEFFADVWR ICTNNTNCTV INDSFQEYST
61 LQAVQATMIL STILCCIAFF IFVLQLFRLK QGERFVLTSI IQLMSCLCVM IAASIYTDRR
121 EDIHDKNAKF YPVTREGSYG YSYILAWVAF ACTFISGMMY LILRKRKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EMP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 215 nTPM
Expression across tissuesHPA
Tissue
- lung: 215 nTPM
- esophagus: 134 nTPM
- skin: 132 nTPM
- blood vessel: 78 nTPM
- liver: 77 nTPM
- vagina: 66 nTPM
Single-cell type
- alveolar cells type 1: 5,548 nCPM
- esophageal apical cells: 1,341 nCPM
- esophageal suprabasal cells: 1,254 nCPM
- transitional alveolar cells: 1,136 nCPM
- suprabasal keratinocytes: 1,052 nCPM
- esophageal basal cells: 694 nCPM
Immune cell
- basophil: 1.2 nTPM
- neutrophil: 0.9 nTPM
- NK-cell: 0.3 nTPM
- non-classical monocyte: 0.3 nTPM
- plasmacytoid DC: 0.3 nTPM
- classical monocyte: 0.2 nTPM
Brain region
- thalamus: 26 nTPM
- choroid plexus: 26 nTPM
- midbrain: 22 nTPM
- medulla oblongata: 20 nTPM
- pons: 20 nTPM
- hypothalamus: 19 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EMP2.
Disease | AllUniProt
Conditions EMP2 is implicated in, by any mechanism.
- Nephrotic syndrome 10 (NPHS10) MIM:615861
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 121 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Nephrotic syndrome, type 10
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.88
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.44
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin filament organization
- actin-mediated cell contraction
- apoptotic process
- bleb assembly
- blood vessel endothelial cell migration
- cell adhesion
- cell-matrix adhesion
- early endosome to late endosome transport
- embryo implantation
- embryonic process involved in female pregnancy
- heart formation
- membrane raft assembly
- natural killer cell proliferation
- neutrophil migration
- plasma membrane raft assembly
- positive regulation of angiogenesis
- positive regulation of cardiac epithelial to mesenchymal transition
- positive regulation of cell population proliferation
- positive regulation of cell-matrix adhesion
- positive regulation of integrin-mediated signaling pathway
- protein localization to cell surface
- protein localization to plasma membrane
- regulation of angiogenesis
- regulation of cell-matrix adhesion
- regulation of endothelial cell migration
- regulation of glomerular filtration
- regulation of kinase activity
- regulation of vasculogenesis
- T cell mediated cytotoxicity
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EMP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EMP2 as an antibody target. Whether an autoantibody or antibody against EMP2 could matter depends on whether native EMP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EMP2 is annotated at the cell surface, where native EMP2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label EMP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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