EVPL Gene (Protein Coding)

Envoplakin

GC17M076004
GIFtS:
36
This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous d... See more...

Aliases for EVPL Gene

Aliases for EVPL Gene

  • Envoplakin 2 3 4 5
  • 210 KDa Cornified Envelope Precursor Protein 3 4
  • 210 KDa Paraneoplastic Pemphigus Antigen 3 4
  • EVPK 2 3
  • EVPL 5
  • P210 4

External Ids for EVPL Gene

Previous GeneCards Identifiers for EVPL Gene

  • GC17P073900
  • GC17M077029
  • GC17M074467
  • GC17M074600
  • GC17M071514
  • GC17M074002
  • GC17M069428

Summaries for EVPL Gene

Entrez Gene Summary for EVPL Gene

  • This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016]

GeneCards Summary for EVPL Gene

EVPL (Envoplakin) is a Protein Coding gene. Diseases associated with EVPL include Paraneoplastic Pemphigus and Pemphigus. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Keratinization. Gene Ontology (GO) annotations related to this gene include structural molecule activity and intermediate filament binding. An important paralog of this gene is PPL.

UniProtKB/Swiss-Prot Summary for EVPL Gene

  • Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments.

Gene Wiki entry for EVPL Gene

Additional gene information for EVPL Gene

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

Genomics for EVPL Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for EVPL 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 EVPL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EVPL

Top Transcription factor binding sites by QIAGEN in the EVPL gene promoter:
  • AhR
  • AP-4
  • ATF6
  • E47
  • HOXA5
  • MyoD
  • NF-kappaB1
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha1

Genomic Locations for EVPL Gene

Latest Assembly
chr17:76,004,502-76,027,306
(GRCh38/hg38)
Size:
22,805 bases
Orientation:
Minus strand

Previous Assembly
chr17:74,002,926-74,023,387
(GRCh37/hg19 by Entrez Gene)
Size:
20,462 bases
Orientation:
Minus strand

chr17:74,000,583-74,023,533
(GRCh37/hg19 by Ensembl)
Size:
22,951 bases
Orientation:
Minus strand

Genomic View for EVPL Gene

Genes around EVPL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EVPL Gene

Proteins for EVPL Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

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

    Protein Symbol:
    Q92817-EVPL_HUMAN
    Recommended name:
    Envoplakin
    Protein Accession:
    Q92817
    Secondary Accessions:
    • A0AUV5

    Protein attributes for EVPL Gene

    Size:
    2033 amino acids
    Molecular mass:
    231604 Da
    Quaternary structure:
    • May form a homodimer or a heterodimer with PPL.

    Three dimensional structures from OCA and Proteopedia for EVPL Gene

neXtProt entry for EVPL Gene

Protein Expression for EVPL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EVPL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EVPL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for EVPL

No data available for DME Specific Peptides for EVPL Gene

Domains & Families for EVPL Gene

Gene Families for EVPL Gene

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

Protein Domains for EVPL Gene

InterPro:
Blocks:
  • Plectin repeat

Suggested Antigen Peptide Sequences for EVPL Gene

GenScript: Design optimal peptide antigens:
  • EVPL protein (B7ZLH8_HUMAN)
  • p210 (EVPL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92817

UniProtKB/Swiss-Prot:

EVPL_HUMAN :
  • Belongs to the plakin or cytolinker family.
Family:
  • Belongs to the plakin or cytolinker family.
genes like me logo Genes that share domains with EVPL: view

Function for EVPL Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for EVPL Gene

UniProtKB/Swiss-Prot Function:
Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments.
UniProtKB/Swiss-Prot Induction:
During differentiation of epidermal keratinocytes.
GENATLAS Biochemistry:
envoplakin,membrane-associated precursor of the epidermal cornified envelope,210 kDa,plakin family of cell junction proteins,paraneoplastic pemphigus antigen complex, homolog to DSP (see symbol)

Phenotypes From GWAS Catalog for EVPL Gene

Gene Ontology (GO) - Molecular Function for EVPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA,IBA 21873635
GO:0005515 protein binding IEA --
GO:0019215 intermediate filament binding IEA --
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with EVPL: view
genes like me logo Genes that share phenotypes with EVPL: view

Animal Models for EVPL Gene

MGI Knock Outs for EVPL:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EVPL

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

Localization for EVPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for EVPL Gene

Cell junction, desmosome. Cornified envelope. Cytoplasm, cytoskeleton. Note=Colocalized with DSP at desmosomes and along intermediate filaments.

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 EVPL gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
extracellular 4
nucleus 3
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Intermediate filaments (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EVPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IEA,TAS --
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005829 cytosol IDA,TAS --
GO:0005856 cytoskeleton IEA --
GO:0005882 colocalizes_with intermediate filament IBA 21873635
genes like me logo Genes that share ontologies with EVPL: view

Pathways & Interactions for EVPL Gene

PathCards logo

SuperPathways for EVPL Gene

SuperPathway Contained pathways
1 Keratinization
Formation of the cornified envelope
.33
Keratinization
.33
2 Developmental Biology
Developmental Biology
.51
3 Cytoskeleton remodeling Neurofilaments
Cytoskeleton remodeling Keratin filaments
.32
genes like me logo Genes that share pathways with EVPL: view

Pathways by source for EVPL Gene

1 GeneGo (Thomson Reuters) pathway for EVPL Gene
  • Cytoskeleton remodeling Keratin filaments

Gene Ontology (GO) - Biological Process for EVPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development IEA,TAS 8707850
GO:0018149 peptide cross-linking IDA 10908733
GO:0030216 keratinocyte differentiation IDA 10908733
GO:0031424 keratinization IEA --
GO:0042060 wound healing IBA 21873635
genes like me logo Genes that share ontologies with EVPL: view

No data available for SIGNOR curated interactions for EVPL Gene

Drugs & Compounds for EVPL Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for EVPL Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for EVPL Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EVPL

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

No ASD Table

Relevant External Links for EVPL Gene

GeneLoc Exon Structure for
EVPL

Expression for EVPL Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for EVPL Gene
mRNA expression by BioGPS for EVPL GenemRNA expression by GTEx for EVPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Esophagus - Mucosa (x16.1), Skin - Sun Exposed (Lower leg) (x9.1), Skin - Not Sun Exposed (Suprapubic) (x8.6), and Vagina (x5.7).

Protein differential expression in normal tissues from HIPED for EVPL Gene

This gene is overexpressed in Cervix (33.1), Esophagus (10.6), and Saliva (8.4).

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EVPL

SOURCE GeneReport for Unigene cluster for EVPL Gene:

Hs.500635

mRNA Expression by UniProt/SwissProt for EVPL Gene:

Q92817-EVPL_HUMAN
Tissue specificity: Exclusively expressed in stratified squamous epithelia.

Evidence on tissue expression from TISSUES for EVPL Gene

  • Skin(4.6)
  • Nervous system(4.3)
  • Lung(3.5)
  • Blood(2.5)
  • Bone marrow(2.4)
genes like me logo Genes that share expression patterns with EVPL: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EVPL Gene

Orthologs for EVPL Gene

This gene was present in the common ancestor of animals.

Orthologs for EVPL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia EVPL 29 30
  • 98.82 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia EVPL 29
  • 87.98 (n)
-- 30
  • 85 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia EVPL 29 30
  • 86.64 (n)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 84 (a)
 ManyToMany
-- 30
  • 80 (a)
 ManyToMany
-- 30
  • 63 (a)
 ManyToMany
Mouse
(Mus musculus)
 Mammalia Evpl 29 16 30
  • 83.6 (n)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Evpl 29
  • 83.05 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 68 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves EVPL 29
  • 67.97 (n)
-- 30
  • 62 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 61 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia evpl 29
  • 59.15 (n)
Zebrafish
(Danio rerio)
 Actinopterygii evpla 29 30
  • 51.58 (n)
 ManyToMany
evplb 30
  • 40 (a)
 ManyToMany
sbcb742 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10086 29
Fruit Fly
(Drosophila melanogaster)
 Insecta shot 30
  • 4 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea vab-10 30
  • 7 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 22 (a)
 OneToMany
Species where no ortholog for EVPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for EVPL Gene

ENSEMBL:
Gene Tree for EVPL (if available)
TreeFam:
Gene Tree for EVPL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EVPL: view image
Alliance of Genome Resources:
Additional Orthologs for EVPL

Paralogs for EVPL Gene

Paralogs for EVPL Gene

(2) SIMAP similar genes for EVPL Gene using alignment to 4 proteins:

  • EVPL_HUMAN
  • B7ZLH8_HUMAN
  • K7EKI0_HUMAN
  • K7EQ87_HUMAN
genes like me logo Genes that share paralogs with EVPL: view

Variants for EVPL Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EVPL Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs144574102 Benign: not provided 76,021,699(-) C/G
NM_001988.4(EVPL):c.890G>C (p.Arg297Pro) 		MISSENSE
rs369580524 Likely Benign: not provided 76,017,837(-) G/A
NM_001988.4(EVPL):c.1612C>T (p.Leu538=) 		SYNONYMOUS
rs755302072 Benign: Abnormality of neuronal migration 76,023,539(-) C/T
NM_001988.4(EVPL):c.314G>A (p.Arg105Gln) 		MISSENSE
rs777067468 Benign: Abnormality of neuronal migration 76,009,079(-) C/A
NM_001988.4(EVPL):c.4126G>T (p.Val1376Leu) 		MISSENSE
rs10445216 -- p.Tyr168Cys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EVPL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv817774 CNV loss 17921354
nsv833546 CNV loss 17160897

Variation tolerance for EVPL Gene

Residual Variation Intolerance Score: 95.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.22; 88.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EVPL Gene

Human Gene Mutation Database (HGMD)
EVPL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EVPL
Leiden Open Variation Database (LOVD)
EVPL

SNP Genotyping and Copy Number Assays for research

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

Disorders for EVPL Gene

MalaCards: The human disease database

(19) MalaCards diseases for EVPL Gene - From: COP and GCD

Disorder Aliases PubMed IDs
paraneoplastic pemphigus
pemphigus
pemphigus foliaceus
  • pf
pemphigus vulgaris, familial
  • pemphigus vulgaris
bullous pemphigoid
  • benign pemphigus
- elite association - COSMIC cancer census association via MalaCards
Search EVPL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EVPL

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with EVPL: view

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

Publications for EVPL Gene

  1. Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25. (PMID: 10409435) Risk JM … Field JK (Genomics 1999) 2 3 4 22
  2. Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin. (PMID: 8707850) Ruhrberg C … Watt FM (The Journal of cell biology 1996) 3 4 22
  3. Chromosomal localisation of the human envoplakin gene (EVPL) to the region of the tylosis oesophageal cancer gene (TOCG) on 17q25. (PMID: 8938451) Ruhrberg C … Watt FM (Genomics 1996) 2 3 22
  4. Detection of anti-envoplakin and anti-periplakin autoantibodies by ELISA in patients with paraneoplastic pemphigus. (PMID: 18820940) Huang Y … Zhu X (Archives of dermatological research 2009) 3 22
  5. Infrequent mutation of the human envoplakin gene is closely linked to the tylosis oesophageal cancer locus in sporadic oesophageal squamous cell carcinomas. (PMID: 15756445) Iwaya T … Masuda T (Oncology reports 2005) 3 22

ExternalLinks

View latest publications for EVPL gene in Mastermind

Products for EVPL Gene

Sources for EVPL Gene