EMP2
entrez
2013
canonical
uniprot
P54851
canonical
ensembl
ENSG00000213853
resolver
ensp
ENSP00000352540
resolver
ensp
ENSP00000445712
resolver
ensp
ENSP00000537065
resolver
ensp
ENSP00000537067
resolver
ensp
ENSP00000537069
resolver
ensp
ENSP00000537070
resolver
ensp
ENSP00000537071
resolver
ensp
ENSP00000537072
resolver
ensp
ENSP00000641858
resolver
ensp
ENSP00000641859
resolver
ensp
ENSP00000641860
resolver
enst
ENST00000359543
resolver
enst
ENST00000536829
resolver
enst
ENST00000867006
resolver
enst
ENST00000867008
resolver
enst
ENST00000867010
resolver
enst
ENST00000867011
resolver
enst
ENST00000867012
resolver
enst
ENST00000867013
resolver
enst
ENST00000971799
resolver
enst
ENST00000971800
resolver
enst
ENST00000971801
resolver
genesymbol
EMP2
resolver
genesymbol_syn
XMP
resolver
hgnc
HGNC:3334
resolver
uniprot
B2R7V6
resolver
uniprot
D3DUF8
resolver
uniprot_entry
EMP2_HUMAN
resolver
uniprot_sec
B2R7V6
resolver
uniprot_sec
D3DUF8
resolver
amino_acid_sequence
MLVLLAFIIAFHITSAALLFIATVDNAWWVGDEFFADVWRICTNNTNCTVINDSFQEYSTLQAVQATMILSTILCCIAFFIFVLQLFRLKQGERFVLTSIIQLMSCLCVMIAASIYTDRREDIHDKNAKFYPVTREGSYGYSYILAWVAFACTFISGMMYLILRKRK
uniprot
proteins
disease_involvement
DISEASE: Nephrotic syndrome 10 (NPHS10) [MIM:615861]: A form of nephrotic syndrome, a renal disease clinically characterized by focal segmental glomerulosclerosis, progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. NPHS10 is a steroid-sensitive form characterized by onset in childhood and remission without end-stage kidney disease. {ECO:0000269|PubMed:24814193}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 transepithelial migration of neutrophils into the alveolar lumen, potentially via mediation of cell surface expression of adhesion markers and lipid raft formation (By similarity). Negatively regulates caveolae formation by reducing CAV1 expression and CAV1 amount by increasing lysosomal degradation (PubMed:24814193). Facilitates surface trafficking and formation of lipid rafts bearing GPI-anchor proteins (By similarity). Regulates surface expression of MHC1 and ICAM1 proteins increasing susceptibility to T-cell mediated cytotoxicity (By similarity). Regulates the plasma membrane expression of the integrin heterodimers ITGA6-ITGB1, ITGA5-ITGB3 and ITGA5-ITGB1 resulting in modulation of cell-matrix adhesion (PubMed:16216233). Also regulates many processes through PTK2. Regulates blood vessel endothelial cell migration and angiogenesis by regulating VEGF protein expression through PTK2 activation (PubMed:23439602). Regulates cell contraction through PTK2 activation (PubMed:22728127). Regulates focal adhesion density, F-actin conformation and cell adhesion capacity through interaction with PTK2 (PubMed:19494199). Positively regulates cell proliferation (PubMed:24814193). Plays a role during cell death and cell blebbing (PubMed:12107182). Promotes angiogenesis and vasculogenesis through induction of VEGFA via a HIF1A-dependent pathway (PubMed:23334331). Also plays a role in embryo implantation by regulating surface trafficking of integrin heterodimer ITGA5-ITGB3 (PubMed:16487956). Plays a role in placental angiogenesis and uterine natural killer cell regulation at the maternal-fetal placental interface, however not required in the maternal tissues for a viable pregnancy (By similarity). Involved in the early stages of embryogenic development and cardiogenesis, potentially via regulation of epithelial-mesenchymal transition timing (By similarity). May play a role in glomerular filtration (By similarity). {ECO:0000250|UniProtKB:F1QIK8, ECO:0000250|UniProtKB:O88662, ECO:0000269|PubMed:12107182, ECO:0000269|PubMed:16216233, ECO:0000269|PubMed:16487956, ECO:0000269|PubMed:19494199, ECO:0000269|PubMed:22728127, ECO:0000269|PubMed:23334331, ECO:0000269|PubMed:23439602, ECO:0000269|PubMed:24814193}.
uniprot
proteins
mass_dalton
19199
uniprot
proteins
protein_family
PMP-22/EMP/MP20 family
uniprot
proteins
pubmed
12107182
uniprot
proteins
pubmed
12710941
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16216233
uniprot
proteins
pubmed
16487956
uniprot
proteins
pubmed
18400107
uniprot
proteins
pubmed
19494199
uniprot
proteins
pubmed
21637765
uniprot
proteins
pubmed
22728127
uniprot
proteins
pubmed
23334331
uniprot
proteins
pubmed
23439602
uniprot
proteins
pubmed
24814193
uniprot
proteins
pubmed
28295343
uniprot
proteins
pubmed
36219627
uniprot
proteins
pubmed
8917086
uniprot
proteins
pubmed
8996089
uniprot
proteins
sequence_length
167
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:18400107}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:12107182, ECO:0000269|PubMed:18400107, ECO:0000269|PubMed:28295343}. Apical cell membrane {ECO:0000250|UniProtKB:O88662}. Membrane raft {ECO:0000250|UniProtKB:O88662}. Cytoplasm {ECO:0000250|UniProtKB:O88662}. Nucleus {ECO:0000250|UniProtKB:Q66HH2}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:O88662}. Note=Localizes in cytoplasm, foot processes and cell bodies of podocytes and nucleus of endothelial cells of kidney. Localizes to the apical cell surface in the luminal epithelium and glandular epithelium. Colocalized with ITGB1 and GPI-anchor proteins on plasma membrane. {ECO:0000250|UniProtKB:O88662, ECO:0000250|UniProtKB:Q66HH2}.
uniprot
proteins
transmembrane_region
TRANSMEM 1..21; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 67..87; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 95..115; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 143..163; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins