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Aliases for EVPL Gene

Aliases for EVPL Gene

  • Envoplakin 2 3 3 5
  • 210 KDa Cornified Envelope Precursor Protein 3 4
  • 210 KDa Paraneoplastic Pemphigus Antigen 3 4
  • EVPK 3
  • 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 Keratinization and Cytoskeleton remodeling Neurofilaments. 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 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EVPL Gene

Genomics for EVPL Gene

Regulatory Elements for EVPL Gene

Enhancers for EVPL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G076026 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7.3 -0.7 -738 4.4 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 NT5C NUP85 UNK ENSG00000266980 CDK3 TEN1 METTL23 MYO15B KCTD2 MFSD11
GH17G075958 0.8 ENCODE 12.6 +67.7 67673 1.9 CTCF PKNOX1 TFAP4 FOXA2 ATF1 SAP130 ARID4B ZNF2 RAD21 GATA3 CDK3 EVPL ACOX1 MRPL38 EXOC7 AANAT UBE2O ENSG00000267615 TEN1 TEN1-CDK3
GH17G076052 0.8 ENCODE 12.2 -26.7 -26692 2.4 KLF1 JUN ZIC2 FOSL1 CTBP1 ZFHX2 POLR2A EGR1 HSF1 SCRT2 EVPL CDK3 SRP68 EXOC7 MRPL38 QRICH2 FBF1 PIR59290 GC17P076053 ZACN
GH17G076070 1.4 FANTOM5 ENCODE 6.2 -44.6 -44561 2.5 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A ZBTB7B YY1 SLC30A9 ZNF207 NUP85 UNK NT5C SRP68 ENSG00000266980 TRIM65 ENSG00000267546 EVPL RNF157 UBALD2
GH17G076049 0.6 ENCODE 12.2 -23.7 -23731 2.5 PKNOX1 ESRRA ZHX2 ZNF217 CTBP1 GATA3 MTA1 RCOR1 FOSL2 FOS SRP68 EVPL ZACN GALR2 CDK3 EXOC7 MRPL38 QRICH2 FBF1 PIR59290
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EVPL on UCSC Golden Path with GeneCards custom track

Genomic Location for EVPL Gene

Chromosome:
17
Start:
76,004,502 bp from pter
End:
76,027,452 bp from pter
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 StructureGene Density

RefSeq DNA sequence for EVPL Gene

Proteins for EVPL Gene

  • 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

Post-translational modifications for EVPL Gene

  • Substrate of transglutaminase. Some glutamines and lysines are cross-linked to other envoplakin molecules, to other proteins such as keratin, desmoplakin, periplakin and involucrin, and to lipids like omega-hydroxyceramide (PubMed:9651377).
  • Ubiquitination at isoforms=1467
  • Modification sites at PhosphoSitePlus

Other Protein References for EVPL Gene

No data available for DME Specific Peptides for EVPL Gene

Domains & Families for EVPL Gene

Gene Families for EVPL Gene

Protein Domains for EVPL Gene

Suggested Antigen Peptide Sequences for EVPL Gene

GenScript: Design optimal peptide antigens:

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

Molecular function for EVPL Gene

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)
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.

Gene Ontology (GO) - Molecular Function for EVPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IDA,IEA 10908733
GO:0019215 intermediate filament binding IEA --
GO:0030674 protein binding, bridging IDA 10908733
GO:0045296 cadherin binding IDA 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 Model Products

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
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 3
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for EVPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IDA --
GO:0005856 cytoskeleton IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with EVPL: view

Pathways & Interactions for EVPL Gene

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

Gene Ontology (GO) - Biological Process for EVPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development TAS,IEA 8707850
GO:0018149 peptide cross-linking IDA 10908733
GO:0030216 keratinocyte differentiation IDA 10908733
GO:0031424 keratinization IEA --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with EVPL: view

No data available for SIGNOR curated interactions for EVPL Gene

Transcripts for EVPL Gene

Unigene Clusters for EVPL Gene

Envoplakin:
Representative Sequences:

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

No ASD Table

Relevant External Links for EVPL Gene

GeneLoc Exon Structure for
EVPL
ECgene alternative splicing isoforms for
EVPL

Expression for EVPL Gene

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



NURSA nuclear receptor signaling pathways regulating expression of EVPL Gene:

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(4.1)
  • Lung(3.1)
  • Blood(2.5)
  • Bone marrow(2.3)
genes like me logo Genes that share expression patterns with EVPL: view

Primer Products

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 34 35
  • 98.82 (n)
dog
(Canis familiaris)
Mammalia EVPL 34
  • 87.98 (n)
-- 35
  • 85 (a)
OneToMany
cow
(Bos Taurus)
Mammalia EVPL 34 35
  • 86.64 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 84 (a)
ManyToMany
-- 35
  • 80 (a)
ManyToMany
-- 35
  • 63 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Evpl 34 16 35
  • 83.6 (n)
rat
(Rattus norvegicus)
Mammalia Evpl 34
  • 83.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves EVPL 34
  • 67.97 (n)
-- 35
  • 62 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia evpl 34
  • 59.15 (n)
zebrafish
(Danio rerio)
Actinopterygii evpla 34 35
  • 51.58 (n)
evplb 35
  • 40 (a)
ManyToMany
sbcb742 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10086 34
fruit fly
(Drosophila melanogaster)
Insecta shot 35
  • 4 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vab-10 35
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 22 (a)
OneToMany
Species where no ortholog for EVPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for EVPL Gene

Paralogs for EVPL Gene

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

genes like me logo Genes that share paralogs with EVPL: view

Variants for EVPL Gene

Sequence variations from dbSNP and Humsavar for EVPL Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs755302072 Benign 76,023,539(+) GCCGC(C/T)GGGCC reference, missense
rs777067468 Benign 76,009,079(+) GACCA(A/C)CACCT reference, missense
rs1000066499 -- 76,027,855(+) TTTTT(A/G)AGAGA upstream-variant-2KB
rs1000085364 -- 76,018,266(+) AGAAT(A/G)AAGAG intron-variant
rs1000086153 -- 76,022,070(+) AGACA(C/G)AAAGT intron-variant

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)

Relevant External Links for EVPL Gene

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

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

Disorders for EVPL Gene

MalaCards: The human disease database

(7) MalaCards diseases for EVPL Gene - From: DISEASES, Novoseek, and GeneCards

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

Relevant External Links for EVPL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EVPL
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 J.M. … Field J.K. (Genomics 1999) 2 3 4 22 64
  2. Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope. (PMID: 9651377) Marekov L.N. … Steinert P.M. (J. Biol. Chem. 1998) 3 4 22 64
  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 F.M. (Genomics 1996) 2 3 22 64
  4. Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin. (PMID: 8707850) Ruhrberg C. … Watt F.M. (J. Cell Biol. 1996) 3 4 22 64
  5. Detection of anti-envoplakin and anti-periplakin autoantibodies by ELISA in patients with paraneoplastic pemphigus. (PMID: 18820940) Huang Y. … Zhu X. (Arch. Dermatol. Res. 2009) 3 22 64

Products for EVPL Gene

Sources for EVPL Gene

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