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

    Gene ID: 2013, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EMP2 in Genome Data Viewer
    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_000016.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr16.1145 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:10597803-10598610 Neighboring gene RNA, U6 small nuclear 633, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10380 Neighboring gene long intergenic non-protein coding RNA 1290 Neighboring gene Sharpr-MPRA regulatory region 3744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10382 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:10658085-10658281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:10672481-10673058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7193 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:10677994-10679193 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:10688146-10688662 Neighboring gene Sharpr-MPRA regulatory region 2211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:10715105-10715806 Neighboring gene Sharpr-MPRA regulatory region 10228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10384 Neighboring gene tektin 5 Neighboring gene uncharacterized LOC105371079 Neighboring gene MT-CYB pseudogene 33

    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
    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
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    Preferred Names
    epithelial membrane protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

      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
      B2R7V6, D3DUF8, P54851
      Related
      ENSP00000352540.3, ENST00000359543.8
      Conserved Domains (1) summary
      pfam00822
      Location:1160
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      10564353..10616512 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)