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Protein

Epithelial membrane protein 2

Gene

EMP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. 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 migration and cell contraction through PTK2 and SRC activation (PubMed:21637765, 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). May play a role in glomerular filtration (By similarity).By similarity9 Publications

GO - Molecular functioni

  • integrin binding Source: MGI
  • kinase binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB

GO - Biological processi

  • actin filament organization Source: UniProtKB
  • actin-mediated cell contraction Source: UniProtKB
  • activation of protein kinase activity Source: UniProtKB
  • bleb assembly Source: UniProtKB
  • blood vessel endothelial cell migration Source: UniProtKB
  • cell adhesion Source: UniProtKB
  • cell death Source: UniProtKB
  • cell-matrix adhesion Source: UniProtKB
  • cell migration Source: UniProtKB
  • cell proliferation Source: ProtInc
  • early endosome to late endosome transport Source: UniProtKB
  • embryo implantation Source: UniProtKB
  • membrane raft assembly Source: UniProtKB
  • positive regulation of cell-matrix adhesion Source: MGI
  • positive regulation of cell proliferation Source: UniProtKB
  • positive regulation of integrin-mediated signaling pathway Source: MGI
  • protein localization to cell surface Source: UniProtKB
  • protein localization to plasma membrane Source: UniProtKB
  • regulation of angiogenesis Source: UniProtKB
  • regulation of endothelial cell migration Source: UniProtKB
  • regulation of glomerular filtration Source: UniProtKB
  • regulation of kinase activity Source: UniProtKB
  • regulation of vasculogenesis Source: UniProtKB
  • T cell mediated cytotoxicity Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000070086-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Epithelial membrane protein 2
Short name:
EMP-2
Alternative name(s):
Protein XMP
Gene namesi
Name:EMP2
Synonyms:XMP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:3334. EMP2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1 – 21HelicalSequence analysisAdd BLAST21
Transmembranei67 – 87HelicalSequence analysisAdd BLAST21
Transmembranei95 – 115HelicalSequence analysisAdd BLAST21
Transmembranei143 – 163HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • apical part of cell Source: UniProtKB
  • apical plasma membrane Source: UniProtKB-SubCell
  • cell surface Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytoplasmic vesicle Source: Ensembl
  • cytosol Source: GOC
  • Golgi apparatus Source: UniProtKB
  • Golgi membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: ProtInc
  • membrane raft Source: UniProtKB
  • nucleus Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Golgi apparatus, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Nephrotic syndrome 10 (NPHS10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615861
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0714787F → L in NPHS10; decreased amount of CAV1. 1 PublicationCorresponds to variant rs730882194dbSNPEnsembl.1
Natural variantiVAR_07147910A → T in NPHS10; decreased amount of CAV1. 1 PublicationCorresponds to variant rs587777482dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2013.
MalaCardsiEMP2.
MIMi615861. phenotype.
OpenTargetsiENSG00000213853.
Orphaneti93216. Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes.
93209. Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation.
93206. Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis.
93207. Idiopathic steroid-sensitive nephrotic syndrome with minimal change.
PharmGKBiPA27771.

Polymorphism and mutation databases

BioMutaiEMP2.
DMDMi1706643.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001646581 – 167Epithelial membrane protein 2Add BLAST167

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi44N-linked (GlcNAc...)Sequence analysis1
Glycosylationi47N-linked (GlcNAc...)Sequence analysis1
Glycosylationi52N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP54851.
PeptideAtlasiP54851.
PRIDEiP54851.

PTM databases

iPTMnetiP54851.
PhosphoSitePlusiP54851.

Expressioni

Tissue specificityi

Expressed in ciliary body epithelia, sclera, cornea, and retinal pigment epithelium (at protein level) (PubMed:12710941).1 Publication

Inductioni

Up-regulated by progesterone, increasing plasma membrane expression.1 Publication

Gene expression databases

BgeeiENSG00000213853.
CleanExiHS_EMP2.
GenevisibleiP54851. HS.

Organism-specific databases

HPAiHPA014711.

Interactioni

Subunit structurei

Interacts with PTK2; regulates PTK2 activation and localization (PubMed:19494199, PubMed:21637765). Interacts with ITGB3; regulates the levels of the heterodimer ITGA5-ITGB3 integrin surface expression (PubMed:16216233). Interacts with P2RX7 (via C-terminus) (PubMed:12107182). Interacts with ITGB1; the interaction may be direct or indirect and ITGB1 has a heterodimer form (By similarity).By similarity4 Publications

GO - Molecular functioni

  • integrin binding Source: MGI
  • kinase binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108328. 1 interactor.
IntActiP54851. 1 interactor.
STRINGi9606.ENSP00000352540.

Structurei

3D structure databases

ProteinModelPortaliP54851.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PMP-22/EMP/MP20 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IH06. Eukaryota.
ENOG4111QXD. LUCA.
GeneTreeiENSGT00510000046328.
HOGENOMiHOG000059542.
HOVERGENiHBG001690.
InParanoidiP54851.
OMAiIQLMSCL.
OrthoDBiEOG091G0RF4.
PhylomeDBiP54851.
TreeFamiTF330414.

Family and domain databases

InterProiIPR003933. EMP-2.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view]
PANTHERiPTHR10671:SF32. PTHR10671:SF32. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01453. EPMEMFAMILY.
PR01455. EPMEMPROT2.
PROSITEiPS01221. PMP22_1. 1 hit.
PS01222. PMP22_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P54851-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLVLLAFIIA FHITSAALLF IATVDNAWWV GDEFFADVWR ICTNNTNCTV
60 70 80 90 100
INDSFQEYST LQAVQATMIL STILCCIAFF IFVLQLFRLK QGERFVLTSI
110 120 130 140 150
IQLMSCLCVM IAASIYTDRR EDIHDKNAKF YPVTREGSYG YSYILAWVAF
160
ACTFISGMMY LILRKRK
Length:167
Mass (Da):19,199
Last modified:October 1, 1996 - v1
Checksum:i3E341DF3581EBCBF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti20F → L in CAA64393 (Ref. 3) Curated1
Sequence conflicti64V → F in CAA64393 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0714787F → L in NPHS10; decreased amount of CAV1. 1 PublicationCorresponds to variant rs730882194dbSNPEnsembl.1
Natural variantiVAR_07147910A → T in NPHS10; decreased amount of CAV1. 1 PublicationCorresponds to variant rs587777482dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U52100 mRNA. Translation: AAC51779.1.
X94770 mRNA. Translation: CAA64393.1.
AY057060 Genomic DNA. Translation: AAL27085.1.
AK313134 mRNA. Translation: BAG35953.1.
CH471112 Genomic DNA. Translation: EAW85180.1.
CH471112 Genomic DNA. Translation: EAW85181.1.
CH471112 Genomic DNA. Translation: EAW85182.1.
BC009687 mRNA. Translation: AAH09687.1.
CCDSiCCDS10541.1.
PIRiJC5044.
JC5732.
RefSeqiNP_001415.1. NM_001424.5.
XP_006720927.1. XM_006720864.3.
UniGeneiHs.531561.

Genome annotation databases

EnsembliENST00000359543; ENSP00000352540; ENSG00000213853.
ENST00000536829; ENSP00000445712; ENSG00000213853.
GeneIDi2013.
KEGGihsa:2013.
UCSCiuc002czx.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U52100 mRNA. Translation: AAC51779.1.
X94770 mRNA. Translation: CAA64393.1.
AY057060 Genomic DNA. Translation: AAL27085.1.
AK313134 mRNA. Translation: BAG35953.1.
CH471112 Genomic DNA. Translation: EAW85180.1.
CH471112 Genomic DNA. Translation: EAW85181.1.
CH471112 Genomic DNA. Translation: EAW85182.1.
BC009687 mRNA. Translation: AAH09687.1.
CCDSiCCDS10541.1.
PIRiJC5044.
JC5732.
RefSeqiNP_001415.1. NM_001424.5.
XP_006720927.1. XM_006720864.3.
UniGeneiHs.531561.

3D structure databases

ProteinModelPortaliP54851.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108328. 1 interactor.
IntActiP54851. 1 interactor.
STRINGi9606.ENSP00000352540.

PTM databases

iPTMnetiP54851.
PhosphoSitePlusiP54851.

Polymorphism and mutation databases

BioMutaiEMP2.
DMDMi1706643.

Proteomic databases

PaxDbiP54851.
PeptideAtlasiP54851.
PRIDEiP54851.

Protocols and materials databases

DNASUi2013.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359543; ENSP00000352540; ENSG00000213853.
ENST00000536829; ENSP00000445712; ENSG00000213853.
GeneIDi2013.
KEGGihsa:2013.
UCSCiuc002czx.4. human.

Organism-specific databases

CTDi2013.
DisGeNETi2013.
GeneCardsiEMP2.
HGNCiHGNC:3334. EMP2.
HPAiHPA014711.
MalaCardsiEMP2.
MIMi602334. gene.
615861. phenotype.
neXtProtiNX_P54851.
OpenTargetsiENSG00000213853.
Orphaneti93216. Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes.
93209. Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation.
93206. Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis.
93207. Idiopathic steroid-sensitive nephrotic syndrome with minimal change.
PharmGKBiPA27771.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH06. Eukaryota.
ENOG4111QXD. LUCA.
GeneTreeiENSGT00510000046328.
HOGENOMiHOG000059542.
HOVERGENiHBG001690.
InParanoidiP54851.
OMAiIQLMSCL.
OrthoDBiEOG091G0RF4.
PhylomeDBiP54851.
TreeFamiTF330414.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000070086-MONOMER.

Miscellaneous databases

ChiTaRSiEMP2. human.
GeneWikiiEMP2.
GenomeRNAii2013.
PROiP54851.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000213853.
CleanExiHS_EMP2.
GenevisibleiP54851. HS.

Family and domain databases

InterProiIPR003933. EMP-2.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view]
PANTHERiPTHR10671:SF32. PTHR10671:SF32. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01453. EPMEMFAMILY.
PR01455. EPMEMPROT2.
PROSITEiPS01221. PMP22_1. 1 hit.
PS01222. PMP22_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEMP2_HUMAN
AccessioniPrimary (citable) accession number: P54851
Secondary accession number(s): B2R7V6, D3DUF8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 2, 2016
This is version 137 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.