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

Gene ID: 2013, updated on 11-Jun-2021

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
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
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Genomic context

See EMP2 in Genome Data Viewer
Location:
16p13.13
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (10528422..10580598, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (10622279..10674455, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr16.1145 Neighboring gene long intergenic non-protein coding RNA 1290 Neighboring gene Sharpr-MPRA regulatory region 10228 Neighboring gene tektin 5 Neighboring gene uncharacterized LOC105371079

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.
GeneReviews: Not available
Genetic variants associated with disordered eating.
GeneReviews: Not available
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
GeneReviews: Not available
Nephrotic syndrome, type 10
MedGen: C4014507 OMIM: 615861 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9056

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
PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 activation of protein kinase activity 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
PubMed 
involved_in cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell death IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell migration IDA
Inferred from Direct Assay
more info
PubMed 
NOT involved_in cell population proliferation 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 membrane raft assembly 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
PubMed 
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 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
PubMed 
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 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 IEA
Inferred from Electronic Annotation
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
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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.

Genomic

  1. NG_042058.1 RefSeqGene

    Range
    5119..57295
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001424.6NP_001415.1  epithelial membrane protein 2 precursor

    See identical proteins and their annotated locations for NP_001415.1

    Status: REVIEWED

    Source sequence(s)
    AA854747, AC027277, AF190163, AK096403, AK127600, AL600791, BC009687, BC016019, BF981157, BF982173, BP395690, BU951297, DA646653
    Consensus CDS
    CCDS10541.1
    UniProtKB/Swiss-Prot
    P54851
    UniProtKB/TrEMBL
    Q7Z4B3
    Related
    ENSP00000352540.3, ENST00000359543.8
    Conserved Domains (1) summary
    pfam00822
    Location:1160
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    10528422..10580598 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720864.3XP_006720927.1  epithelial membrane protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006720927.1

    UniProtKB/Swiss-Prot
    P54851
    Related
    ENSP00000445712.1, ENST00000536829.1
    Conserved Domains (1) summary
    pfam00822
    Location:1160
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
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