EMP2 epithelial membrane protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EMP2provided by HGNC
Official Full Name: epithelial membrane protein 2provided by HGNC
Primary source: HGNC:HGNC:3334
See related: Ensembl:ENSG00000213853 MIM:602334; AllianceGenome:HGNC:3334
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: XMP
Summary: 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]
Expression: Biased expression in lung (RPKM 155.3), skin (RPKM 53.3) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (10528422..10580598, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (10564353..10616512, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (10622279..10674455, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epithelial membrane protein 2 (EMP2): A systematic review of its implications in pathogenesis.
Title: Epithelial membrane protein 2 (EMP2): A systematic review of its implications in pathogenesis.
Epithelial membrane protein 2 (EMP2) regulates hypoxia-induced angiogenesis in the adult retinal pigment epithelial cell lines.
Title: Epithelial membrane protein 2 (EMP2) regulates hypoxia-induced angiogenesis in the adult retinal pigment epithelial cell lines.
Expression of epithelial membrane protein (EMP) 1, EMP 2, and EMP 3 in thyroid cancer.
Title: Expression of epithelial membrane protein (EMP) 1, EMP 2, and EMP 3 in thyroid cancer.
EMP2 induces cytostasis and apoptosis via the TGFbeta/SMAD/SP1 axis and recruitment of P2RX7 in urinary bladder urothelial carcinoma.
Title: EMP2 induces cytostasis and apoptosis via the TGFβ/SMAD/SP1 axis and recruitment of P2RX7 in urinary bladder urothelial carcinoma.
Coexpression of PBX1 and EMP2 as Prognostic Biomarkers in Estrogen Receptor-Negative Breast Cancer via Data Mining.
Title: Coexpression of PBX1 and EMP2 as Prognostic Biomarkers in Estrogen Receptor-Negative Breast Cancer via Data Mining.
EMP2 Is a Novel Regulator of Stemness in Breast Cancer Cells.
Title: EMP2 Is a Novel Regulator of Stemness in Breast Cancer Cells.
Epithelial Membrane Protein 2 Suppresses Non-Small Cell Lung Cancer Cell Growth by Inhibition of MAPK Pathway.
Title: Epithelial Membrane Protein 2 Suppresses Non-Small Cell Lung Cancer Cell Growth by Inhibition of MAPK Pathway.
Identification of epithelial membrane protein 2 (EMP2) as a molecular marker and correlate for angiogenesis in meningioma.
Title: Identification of epithelial membrane protein 2 (EMP2) as a molecular marker and correlate for angiogenesis in meningioma.
EMP2 had a significantly higher capture efficiency on MDA-MB-231 cells when compared to MCF7 cells
Title: Epithelial membrane protein 2: a novel biomarker for circulating tumor cell recovery in breast cancer.
miR-133b effectively binds to EMP2, down-regulates its expression and negates its normal function in glioma.
Title: miR-133b acts as a tumor suppressor and negatively regulates EMP2 in glioma.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nephrotic syndrome, type 10 MedGen: C4014507 OMIM: 615861 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S3221 (e-PCR)
- UniSTS:42251

SHGC-148864 (e-PCR)
- UniSTS:176654

SHGC-147579 (e-PCR)
- UniSTS:175887

RH66599 (e-PCR)
- UniSTS:3347

GDB:434012 (e-PCR)
- UniSTS:157204

RH81007 (e-PCR)
- UniSTS:91937

D11S2560 (e-PCR)
- UniSTS:37928

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

RH70402 (e-PCR)
- UniSTS:19550

RH71236 (e-PCR)
- UniSTS:48992

D1S1423 (e-PCR)
- UniSTS:149619

G35510 (e-PCR)
- UniSTS:44150

SHGC-149494 (e-PCR)
- UniSTS:177036

EMP2 (e-PCR)
- UniSTS:519362

RH65260 (e-PCR)
- UniSTS:86217

RH99305 (e-PCR)
- UniSTS:90058

GDB:631802 (e-PCR)
- UniSTS:158429

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables integrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in T cell mediated cytotoxicity	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin filament organization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin-mediated cell contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in bleb assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in blood vessel endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in caveola assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-matrix adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in early endosome to late endosome transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryo implantation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic process involved in female pregnancy	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane raft assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in natural killer cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in neutrophil migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in plasma membrane raft assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cardiac epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cell-matrix adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of integrin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of integrin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to cell surface	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of glomerular filtration	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of vasculogenesis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in apical part of cell	ISS Inferred from Sequence or Structural Similarity more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
NOT colocalizes_with caveola	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: epithelial membrane protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.