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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]
EMP2 (Epithelial Membrane Protein 2) is a Protein Coding gene. Diseases associated with EMP2 include Nephrotic Syndrome, Type 10 and Genetic Steroid-Resistant Nephrotic Syndrome. Gene Ontology (GO) annotations related to this gene include protein kinase binding and kinase binding. An important paralog of this gene is EMP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005178 | integrin binding | IPI | 16216233 |
GO:0005515 | protein binding | IPI | 12107182 |
GO:0019900 | kinase binding | IPI | 19494199 |
GO:0019901 | protein kinase binding | IPI | 21637765 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005634 | nucleus | ISS | -- |
GO:0005737 | cytoplasm | IBA,IDA | 21637765 |
GO:0005794 | Golgi apparatus | ISS | -- |
GO:0005829 | cytosol | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001765 | membrane raft assembly | ISS | -- |
GO:0001913 | T cell mediated cytotoxicity | ISS | -- |
GO:0001952 | regulation of cell-matrix adhesion | IBA | 21873635 |
GO:0001954 | positive regulation of cell-matrix adhesion | IDA | 16216233 |
GO:0003093 | regulation of glomerular filtration | IDA | 24814193 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EMP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EMP2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EMP2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Emp2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Emp2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EMP2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EMP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EMP2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EMP2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | emp2 30 |
|
||
Str.2727 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC52916 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | emp2 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1468756555 | Uncertain Significance: not provided | 10,538,037(-) |
G/C NM_001424.6(EMP2):c.207C>G (p.Ile69Met) |
MISSENSE | |
rs1504883 | Benign: not specified | 10,538,088(-) |
G/A NM_001424.6(EMP2):c.170-14C>T |
INTRON | |
rs1567199317 | Uncertain Significance: not provided | 10,532,987(-) |
T/C NM_001424.6(EMP2):c.422A>G (p.Tyr141Cys) |
MISSENSE | |
rs587777481 | Pathogenic: Nephrotic syndrome, type 10 | 10,538,060(-) |
G/A NM_001424.6(EMP2):c.184C>T (p.Gln62Ter) |
NONSENSE | |
rs587777482 | Pathogenic: Nephrotic syndrome, type 10. Nephrotic syndrome 10 (NPHS10) [MIM:615861] | 10,547,590(-) |
C/Tp.Ala10Thr NM_001424.6(EMP2):c.28G>A (p.Ala10Thr) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2663799 | CNV | deletion | 23128226 |
esv3637903 | CNV | loss | 21293372 |
esv3637906 | CNV | loss | 21293372 |
esv3892791 | CNV | loss | 25118596 |
nsv1040428 | CNV | gain | 25217958 |
nsv1043748 | CNV | gain | 25217958 |
nsv1051406 | CNV | loss | 25217958 |
nsv516716 | CNV | loss | 19592680 |
nsv528167 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrotic syndrome, type 10 |
|
|
genetic steroid-resistant nephrotic syndrome |
|
|
nephrotic syndrome |
|
|
diamond-blackfan anemia 10 |
|
|
pyosalpinx |
|
|