The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved in cell proliferation, cell-cell interactions and function as a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] See more...

Aliases for EMP3 Gene

Aliases for EMP3 Gene

  • Epithelial Membrane Protein 3 2 3 4 5
  • Hematopoietic Neural Membrane Protein 1 3 4
  • HNMP-1 3 4
  • EMP-3 3 4
  • YMP 3 4
  • Protein YMP 4

External Ids for EMP3 Gene

Previous GeneCards Identifiers for EMP3 Gene

  • GC19P049473
  • GC19P049196
  • GC19P053504
  • GC19P053520
  • GC19P048829
  • GC19P045209

Summaries for EMP3 Gene

Entrez Gene Summary for EMP3 Gene

  • The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved in cell proliferation, cell-cell interactions and function as a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

GeneCards Summary for EMP3 Gene

EMP3 (Epithelial Membrane Protein 3) is a Protein Coding gene. Diseases associated with EMP3 include Charcot-Marie-Tooth Disease and Neuroblastoma 1. An important paralog of this gene is PMP22.

UniProtKB/Swiss-Prot Summary for EMP3 Gene

  • Probably involved in cell proliferation and cell-cell interactions.

Gene Wiki entry for EMP3 Gene

Additional gene information for EMP3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EMP3 Gene

Genomics for EMP3 Gene

GeneHancer (GH) Regulatory Elements for EMP3 Gene

Promoters and enhancers for EMP3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EMP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EMP3 gene promoter:
  • AREB6
  • Bach2
  • COUP-TF
  • COUP-TF1
  • E47
  • HEN1
  • HNF-4alpha1
  • RelA
  • RORalpha1
  • STAT1

Genomic Locations for EMP3 Gene

Genomic Locations for EMP3 Gene
chr19:48,321,509-48,330,555
(GRCh38/hg38)
Size:
9,047 bases
Orientation:
Plus strand
chr19:48,824,766-48,833,810
(GRCh37/hg19)
Size:
9,045 bases
Orientation:
Plus strand

Genomic View for EMP3 Gene

Genes around EMP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMP3 Gene

Proteins for EMP3 Gene

  • Protein details for EMP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54852-EMP3_HUMAN
    Recommended name:
    Epithelial membrane protein 3
    Protein Accession:
    P54852
    Secondary Accessions:
    • Q6FH01

    Protein attributes for EMP3 Gene

    Size:
    163 amino acids
    Molecular mass:
    18429 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EMP3 Gene

Post-translational modifications for EMP3 Gene

  • Glycosylation at Asn47 and Asn56
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EMP3 Gene

Domains & Families for EMP3 Gene

Gene Families for EMP3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for EMP3 Gene

GenScript: Design optimal peptide antigens:
  • Protein YMP (EMP3_HUMAN)
  • EMP3 protein (Q6IBD3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P54852

UniProtKB/Swiss-Prot:

EMP3_HUMAN :
  • Belongs to the PMP-22/EMP/MP20 family.
Family:
  • Belongs to the PMP-22/EMP/MP20 family.
genes like me logo Genes that share domains with EMP3: view

Function for EMP3 Gene

Molecular function for EMP3 Gene

UniProtKB/Swiss-Prot Function:
Probably involved in cell proliferation and cell-cell interactions.
GENATLAS Biochemistry:
epithelial membrane protein 3

Phenotypes From GWAS Catalog for EMP3 Gene

Gene Ontology (GO) - Molecular Function for EMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12107182
genes like me logo Genes that share ontologies with EMP3: view
genes like me logo Genes that share phenotypes with EMP3: view

Animal Models for EMP3 Gene

MGI Knock Outs for EMP3:
  • Emp3 Emp3<tm1378Arte>

Animal Model Products

  • Taconic Biosciences Mouse Models for EMP3

CRISPR Products

miRNA for EMP3 Gene

miRTarBase miRNAs that target EMP3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EMP3 Gene

Localization for EMP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMP3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EMP3 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for EMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA,IDA 12107182
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EMP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EMP3 Gene

Pathways & Interactions for EMP3 Gene

PathCards logo

SuperPathways for EMP3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death IDA 12107182
GO:0016049 cell growth IEA --
GO:0032060 bleb assembly IDA 12107182
genes like me logo Genes that share ontologies with EMP3: view

No data available for Pathways by source and SIGNOR curated interactions for EMP3 Gene

Drugs & Compounds for EMP3 Gene

No Compound Related Data Available

Transcripts for EMP3 Gene

mRNA/cDNA for EMP3 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EMP3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b
SP1: - - -
SP2: - -
SP3: - -
SP4: - - - -
SP5: - - -
SP6: -
SP7: - - - - - -

Relevant External Links for EMP3 Gene

GeneLoc Exon Structure for
EMP3
ECgene alternative splicing isoforms for
EMP3

Expression for EMP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EMP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EMP3 Gene

This gene is overexpressed in Whole Blood (x9.7).

Protein differential expression in normal tissues from HIPED for EMP3 Gene

This gene is overexpressed in Colon (11.1) and Esophagus (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EMP3 Gene



NURSA nuclear receptor signaling pathways regulating expression of EMP3 Gene:

EMP3

SOURCE GeneReport for Unigene cluster for EMP3 Gene:

Hs.9999

Evidence on tissue expression from TISSUES for EMP3 Gene

  • Lung(4.4)
  • Spleen(4.3)
  • Nervous system(2.6)
  • Skin(2.4)
  • Bone marrow(2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with EMP3: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EMP3 Gene

Orthologs for EMP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EMP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EMP3 33 32
  • 99.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EMP3 33 32
  • 92.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EMP3 33 32
  • 89.81 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Emp3 17 33 32
  • 86.81 (n)
rat
(Rattus norvegicus)
Mammalia Emp3 32
  • 86.81 (n)
lizard
(Anolis carolinensis)
Reptilia EMP3 33
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emp3 32
  • 64.58 (n)
Str.8279 32
African clawed frog
(Xenopus laevis)
Amphibia emp3-prov 32
zebrafish
(Danio rerio)
Actinopterygii zgc:114127 32
  • 61.11 (n)
EMP3 (2 of 2) 33
  • 52 (a)
OneToMany
EMP3 (1 of 2) 33
  • 51 (a)
OneToMany
Species where no ortholog for EMP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EMP3 Gene

ENSEMBL:
Gene Tree for EMP3 (if available)
TreeFam:
Gene Tree for EMP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EMP3: view image

Paralogs for EMP3 Gene

Paralogs for EMP3 Gene

(3) SIMAP similar genes for EMP3 Gene using alignment to 7 proteins:

  • EMP3_HUMAN
  • M0QXN1_HUMAN
  • M0QXS0_HUMAN
  • M0QZ66_HUMAN
  • M0R122_HUMAN
  • M0R1L9_HUMAN
  • Q6IBD3_HUMAN
genes like me logo Genes that share paralogs with EMP3: view

Variants for EMP3 Gene

Sequence variations from dbSNP and Humsavar for EMP3 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000049741 -- 48,325,625(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000103620 -- 48,330,695(+) G/A/T downstream_transcript_variant
rs1000622336 -- 48,330,970(+) C/G downstream_transcript_variant
rs1000910810 -- 48,325,120(+) C/A upstream_transcript_variant
rs1001354085 -- 48,330,181(+) A/C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EMP3 Gene

Variant ID Type Subtype PubMed ID
esv34181 CNV loss 18971310
nsv469623 CNV loss 16826518
nsv833854 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for EMP3 Gene

Residual Variation Intolerance Score: 69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.51; 43.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EMP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMP3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMP3 Gene

Disorders for EMP3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EMP3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease
  • peroneal muscular atrophy
neuroblastoma 1
  • neuroblastoma, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search EMP3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EMP3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EMP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EMP3 Gene

Publications for EMP3 Gene

  1. Analysis of candidate genes for prostate cancer. (PMID: 15583422) Burmester JK … Catalona WJ (Human heredity 2004) 3 23 43 56
  2. HNMP-1: a novel hematopoietic and neural membrane protein differentially regulated in neural development and injury. (PMID: 9204931) Bolin LM … McClanahan TK (The Journal of neuroscience : the official journal of the Society for Neuroscience 1997) 3 4 23 56
  3. Characterization of a tumor-associated gene, a member of a novel family of genes encoding membrane glycoproteins. (PMID: 8996089) Ben-Porath I … Benvenisty N (Gene 1996) 2 3 4 56
  4. Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family. (PMID: 8917086) Taylor V … Suter U (Gene 1996) 3 4 23 56
  5. EMP3 overexpression in primary breast carcinomas is not associated with epigenetic aberrations. (PMID: 19270820) Zhou W … Yu J (Journal of Korean medical science 2009) 3 23 56

Products for EMP3 Gene

Sources for EMP3 Gene